thiamine deficiency Archives

Thiamine Deficiency and Dependency Syndromes: Case Reports

Published on April 14, 2025

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I have been studying thiamine metabolism since 1969 when I published the first case of thiamine dependency: Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria. The case involved a 6-year old boy experiencing recurrent episodes of cerebellar ataxia (a brain disease resulting in complete loss of a sense of balance). These episodes, occurring intermittently, were naturally self-limiting without any treatment and were triggered by inoculation, mild head trauma, or a simple infection such as a cold. In other words, his episodes of ataxia were repeatedly initiated by an environmental factor. I have called each of these variable factors a “stressor”. Our studies showed that one of these stressors would unmask the true underlying latent thiamine dependency, falsely giving the impression that the stressor was the primary cause. This may be the principle of post vaccination disease in some cases. It may also be too easy to explain symptoms arising from trauma or infection as primary cause. These recurrent ataxic episodes were prevented from occurring by giving him mega-doses of a thiamine supplement.

Cerebellar Ataxia of Metabolic Origins?

When ataxia, as in this child, or other symptoms, occur intermittently, as they did in many other patients whom I would treat across my career, it is difficult to identify the true cause. The studies performed by neurologists, neurosurgeons and others inevitably would be normal, causing diagnostic confusion. In other patients with less serious symptoms, they are considered to be somehow feigned or of psychological origin. Symptoms that appear and disappear in a seemingly random manner and are not supported by conventional laboratory data are often explained this way. Please be aware that ataxia should never be regarded as psychosomatic. The point is that less serious symptoms that cause deviant behavior may not be recognized as biochemical changes in the brain.

With the present medical model, it is difficult to understand and accept that a stress factor can initiate the symptoms of a metabolically caused disease that has been relatively innocuous or silent until the stress is imposed. Let me give you another example.

Loss of Consciousness, Edema, Joint Pain: Rheumatic Disease or Metabolic Disorder

Since I was working at a multi-specialty clinic I was sitting having lunch with an ear, nose, throat (ENT) surgeon who knew of my interest in sudden death in infants (Treatment of threatened SIDS with megadose thiamine hydrochloride). He had been called to put in a tracheostomy to a middle-aged woman who had suddenly stopped breathing. Unlikely as it sounds, he suggested that I should go and look at the situation unofficially.

In the hierarchy of specialization, a pediatrician is not supposed to know anything about adult conditions, so I was not welcome. Because the internists who were taking care of her were rheumatologists, it was considered to be some kind of rheumatic disease, because of aches and pains in joints and limbs. She had had periods of unconsciousness over many years and her body was profoundly swollen, the hallmark of beriberi. Without going into details I was able to prove that this was indeed beriberi.

When I approached the rheumatologist who was her primary physician, I could not convince her of what appeared to her as too bizarre to contemplate. Notwithstanding, I had the cooperation with the nurses who followed my directions. When the patient was given injections of thiamine, she recovered consciousness and the gross body edema disappeared.

So fixed in the mind of many physicians is the concept that a vitamin related emergency simply does not occur, it was called “spontaneous remission” by my colleagues and “had nothing to do with vitamin therapy”. When I asked the rheumatologist whether we could conference the patient, she ignored the request. Well, this was not the end of the story.

Resolving One Deficiency Often Unmasks Another

After she started the injections of thiamine, with recovery of the nervous system, she began to develop a progressive anemia. It was considered by the internists to be internal bleeding and a thorough search produced only negative results. So ingrained is the negative attitude to vitamin therapy, I was even in fear that I might be blamed for causing the anemia. In the meantime, I took a specimen of urine and found a substance in the urine that suggested a deficiency of folic acid. Readers will remember that folic acid is a member of the B group of vitamins, as is thiamine. A blood test proved that she was indeed deficient in folic acid. When this vitamin was given to her, the anemia rapidly disappeared. This, believe it or not, still did not interest my colleagues.

She was discharged from the hospital, receiving supplements of thiamine and folic acid and her nervous system gradually improved. Some months later she developed a rash of a type that had been reported a few months previously as due to vitamin B12 deficiency. She was given an injection of vitamin B12 and over the next few days suffered slight fever and variable joint pains. These were symptoms with which she was familiar and had been responsible for the diagnosis of rheumatic disease. This sometimes happens temporarily with vitamin therapy, but often enough that I refer to it as “paradox”, meaning that things seem to be worse before they get better. Note that this paradox is not the same as side effects from a drug. The symptoms that cause a patient to see a doctor are temporarily exacerbated. With our present model the patient concludes that this is side effects from the vitamin(s) being used. I had to learn that paradox was the best sign that improvement would follow with persistence. She then continued on the thiamine, folic acid and vitamin B12.

The Role of Lifestyle and Diet Disease Expression – Oft Ignored Stressors

The fact that this woman was a chronic beer drinker and smoker had been ignored. They were, if you will, the “stressors” that were the dominant cause, perhaps impacting on genetic risk factors. The relationship between alcohol and thiamine deficiency is well known and so she had induced her own disease. Since there was a profound ignorance concerning vitamin deficiency diseases, the beriberi had been referred to by her internists as “rheumatic” in nature. This is because joint and limb pain, usually not recognized for what the pains represent, are often associated with compromised oxidative metabolism, either in the limb itself or in the brain where the pain is interpreted.

Defective oxidative metabolism caused in this patient’s case by thiamine deficiency, causes exaggerated brain perception. The brain induced a pain that gave the false impression that the disease originated in the joints and other parts of the body. Even if the origin of the pain is truly from a joint or muscle, defective oxidative metabolism in the brain will exaggerate the sense of pain perceived by the patient. Although this “phantom” pain is known as “hyperalgesia”, the mechanism is not well known as being due to compromised oxidation in the pain perception brain centers. Thiamine deficiency was responsible for the hyperalgesia experienced by the case of a patient with eosinophilic esophagitis that was posted recently on this website.

Beyond Thiamine: Multi-Nutrient Deficiencies

What interested me in the woman with beriberi was that folic acid deficiency was not revealed until her metabolism had been accelerated by the pharmacological use of thiamine. The folic acid deficiency then became clinically expressed as her metabolism “woke up”. It had been well known for some time that folic acid produced anemia would have to be treated with both folic acid and vitamin B12.

In the case of folic acid deficient Pernicious Anemia, if vitamin B12 was not given at the same time, the patient would develop a disease known as subacute combined degeneration of the spinal cord. Because I had forgotten this fact, I had neglected to give her vitamin B12 until it was finally expressed clinically in the form of a rash. Associating a skin rash with a vitamin deficiency is certainly not commonly accepted as a possible indicator of an underlying cause by physicians.

Vitamin Deficiency Versus Dependency

Returning to the case of the 6-year old boy discussed above, we learned over time that his health was dependent on high doses of thiamine to function. Believe it or not, this child required 600 mg of thiamine a day in order to prevent his episodes of illness. If he began to notice the beginning of an infection he would double the dose. The recommended daily allowance for thiamine is between one and 1.5 mg a day. Here, and in many other cases, huge doses of the vitamin are required in order to accomplish the physiologic effect. This represents what I call vitamin dependency.

Thiamine and magnesium, like many other vitamins, are known as cofactors to enzymes. An enzyme without its cofactor works inefficiently if it works at all. The “magic” of evolution has “invented” this cooperative action which is in itself under genetic control. In technical terms, the vitamin has to “bond” with the enzyme. If this bonding mechanism is genetically compromised, the concentration of the corresponding cofactor has to be increased enormously by supplementation in order to prevent the inevitable symptoms. You can see that this requires a clinical perspective tied to unusual biochemical knowledge. This is in complete contrast to what is usually regarded as vitamin deficiency, arising from insufficient concentrations in the diet.

What is perhaps not known sufficiently is that prolonged vitamin deficiency appears to affect this bonding mechanism. For example, it has long been known that to cure chronic beriberi, megadoses of thiamine are required for months. I have concluded that the megadoses of thiamine given by supplementation to a patient with long term symptoms arising from unrecognized deficiency appears to re-activate the inefficient enzyme. It is as though the enzyme has to be repeatedly exposed to megadoses of its cofactor to stimulate it and restore its lost function.

This may mean that even if the bonding mechanism is normal in chronic deficiency, enzyme function has simply decayed from lack of stimulation. This may explain why genetically determined dependency and long term dietary deficiency will produce the same clinical effect. The dosing of vitamins, if the clinical effects of deficiency are recognized, is not well understood in traditional western medicine. When insufficient doses are given and the symptoms fail to abate, the practitioner views it as evidence that supplements do not work.

Biochemical Diagnoses are Complex

I want the general public to begin to understand the principles that underlie the complexity of biochemical diagnosis. Perhaps a reader might find that a case like this is a reminder of a loved one whose illness was never understood after seeing many different specialists, all of whom were like the blind men and the elephant. Each was confined to his specialist status but none of them could see the overall big picture.

Reading these cases, you might easily come to the conclusion that they represent a rarity. Chronically unrecognized thiamine deficiency is common. Dependency is not uncommon. It is not as rare as is presently thought. Believe me, cases like these are surprisingly common and are responsible for a great deal of diagnostic confusion.

Vitamins are essential to consumption of oxygen in all life processes. To go against the principles of diet dictated by Mother Nature is a risk to life and limb that is not worth the derived pleasure. When limb pain is experienced without an obvious trauma, it is difficult to accept that it is because of inefficient use of oxidation in the brain, but that is exactly what we found.

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Marginally Insufficient Thiamine Intake and Oxalates

by Chandler Marrs, PhD

Published on April 9, 2025

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Over the last few years, it has become increasingly apparent how important thiamine is to overall health. Thiamine (thiamin) or vitamin B1, sits atop the mitochondria at multiple entry points involved in the metabolism of foods into cellular energy (ATP). It is also critical for several enzymatic reactions within the mitochondria. We have illustrated repeatedly how thiamine deficiency leads to mitochondrial dysfunction, which in turn leads to complex multi-organ system illnesses characterized by chronic inflammation, disturbed immune function, altered steroidogenesis. Each of these is related to deficient mitochondrial energetics. When serious or chronic, thiamine deficiency leads to erratic autonomic function, now called dysautonomia, and a set of disease processes called beriberi.

Long before those symptoms emerge and absent severe deficiency, marginal thiamine status evokes subtle changes in metabolic function. Among these changes, enzymes that would normally metabolize certain foods fully and into useful substrates for other functions are downregulated, shifting the metabolic pathway towards more toxic end-products. The chemistry is complicated and we will go over it in a moment, but first I would like to propose a framework for understanding metabolism. For me, it is useful to imagine metabolism visually as giant maze of right and left turns; where wrong turns lead to dead ends and dead ends lead to the build up of endogenous toxins. Among the primary variables determining the route metabolism takes is enzyme nutrition.

Enzymes require nutrient cofactors to perform their metabolic tasks. When the appropriate nutrient co-factors are present in sufficient concentrations for the enzymes to operate fully, the food we eat is successfully metabolized into end-products that are useful for all manner of processes and cellular energy is produced. Even in the case of genetic aberrations that limit enzyme function endogenously, there is evidence that nutrient manipulation can overcome inadequate enzyme activity. When nutrient co-factors are in short-supply, however, resources are reallocated. Metabolism shifts directions, it takes a right turn when it should move left or vice versa. Different enzymes are activated and metabolism eventually reaches a dead end but not before potentially toxic, unused waste products build up. As these toxins build up, other systems become disrupted, inflammatory and immune responses are activated, demanding ever more energy to resolve. It is this energy spiral, I believe, that induces and maintains many of the illnesses we see today. This means that observing how one reacts to certain foods may point us to correctable nutrient deficiencies.

The Rise in Food Sensitivities

In recent years, I have become fascinated by the growing preponderance of food sensitivities and intolerances. It seems everyone has a problem with something. Given the current practices used in industrial food production, I suppose it is no wonder. We use a staggering number of chemicals to grow and process foods; chemicals that reduce the nutrient content of supposedly healthy foods, but also, present as toxicants that must be dealt with metabolically when ingested. The double hit of low nutrients/high toxicants is disastrous for metabolism. Throw in the generally high calorie content of the western diet and one has to wonder how our mitochondria function at all. And yet they do. Well, sort of. If we don’t count the exponential growth in chronic and seemingly intractable illnesses, but I digress. I believe that food, or lack of quality food, is top among the core contributors to modern illness and food sensitivities are among the key early warning signs of poor metabolism and by definition, faltering mitochondria.

Oxalate Problems

One of the more intriguing and troubling food intolerances that has become increasingly common is to the high oxalate foods. Oxalates are natural substances found in many healthy foods, especially dark leafy greens like spinach, that bind calcium and other minerals, and when left unmetabolized, can form crystals leading to kidney stones. Approximately 10% of men and 7% of women experience at least one episode of kidney stones across the lifetime. Beyond the kidney stone, oxalate intolerance is linked to wide range of chronic health conditions largely due to the build up oxalic acid which may or may not bind calcium, but causes problems nevertheless. Poor oxalate metabolism disrupts gut health, shifting the microbiome unfavorably causing dysbiosis, damages the mitochondria and induces system wide oxidative stress, inflammation and immune reactivity. Problems with oxalate metabolism have been found in individuals with autism, multiple sclerosis, arthritis, and fibromyalgia to name but a few. A common and usually somewhat successful remedy is to avoid the consumption of high oxalate foods. Below are some of the more common high oxalates.

Figure 1. High Oxalate Foods

Absent genetic aberrations leading to poor oxalate handling, I cannot help but wondering if the avoidance diet is the correct response, especially permanently. Certainly, it would help short term, and there may be foods that result in oxalate accumulation that could or should be avoided long term, but an across-the-board and permanent avoidance of most oxalate producing foods seems problematic nutritionally. If we consider that many who suffer from oxalate issues may also be sensitive to other foods, the avoidance approach could limit dietary options considerably. What if we are approaching this issue incorrectly? My gut tells me, and research seems to back it up, that barring genetic issues with oxalate metabolism, the dietary component is not simply one of excess oxalate consumption. It is a problem with inadequate nutrient consumption in the face of excessive non-nutrient foods – e.g. it is a problem with the modern western diet in its entirety.

Other Dietary Contributors to Oxalate Buildup: Processed Foods

If we dig into the oxalate issue a little more, we see that foods resulting in excess oxalate storage are not necessarily limited to whole foods listed above in Figure 1. A number of foods classified as high oxalate, are simply processed food products, high in carbohydrates, trans fats and low in nutrients. Below is a graph of some of the higher oxalate foods as compiled by the University of Chicago via Harvard’s School of Public Health. Notice, how processed foods make this list. Sure, their oxalate status is significantly lower than other foods, but consider what portion of the average western diet these products comprise. Click the links above to see a more complete listing foods that result in high oxalate accumulation. When you search through those lists (especially, the one from the University of Chicago), it becomes apparent that virtually all processed foods can result in oxalate problems.

Figure 2. Oxalate Content in Common Foods

food-oxalate-graph

One could argue that oxalate buildup involves shifts in the metabolic pathway that are directly related to nutrient deficiencies and those nutrient deficiencies emerge from the consumption of the modern diet. Processed carbohydrates, for example, in the presence of thiamine deficiency, are metabolized quite differently than when thiamine is present, with the former resulting in oxalate build up. Since a diet high in processed carbohydrates is one of the leading causes of thiamine deficiency in the first place, this begs the question, is the issue really oxalates or a sort of high calorie malnutrition resulting in thiamine deficiency, where oxalate accumulation is just a side-effect. Similarly, when thiamine is absent, fatty acid metabolism can go awry, making highly processed, high carbohydrate, high fat foods damaging on two fronts.

Finally, there are many other foods that can lead to high oxalate production in the presence of low thiamine including: beer, wine, tea, coffee, yogurt, bread, rice, soybean paste, soy sauce, and oil, along with foods that have been fermented, roasted, baked, or fried. And just like high carbohydrate diets can lead to thiamine deficiency, as nature would have it, all alcoholic drinks, coffee, and tea decrease thiamine uptake thereby both creating and exacerbating the thiamine deficiency that leads to oxalate accumulation. It could be that problems with oxalates is simply the early sign of thiamine deficiency and it may very well be a protective mechanism of sorts, a metabolic diversion, albeit an unhealthy one, to forestall the other issues associated with insufficient thiamine intake.

I should also mention that oxalate problems may not be solely related to diet. Inasmuch as all pharmaceuticals damage the mitochondria and either decrease thiamine directly or increase the demand for the need for thiamine indirectly, regular use of pharmaceuticals may also contribute to the problem. Similarly, a number of environmental exposures increase glyoxal (a precursor to oxalate build up in the face of low thiamine), including: cigarette smoke, smoke from residential log fires, vehicle exhaust, smog, fog, and some household cleaning products.

Is Thiamine Really the Problem?

It may be. The chemistry is complicated and detailed below, but basically, marginal thiamine status, prevents the proper metabolism of certain foods leading to the build up of toxins while simultaneously crippling the natural detox pathways. The combination of increased toxins and decreased detox ability leads to all sorts of damage and illness, high oxidative stress, and as illustrated by the graphic below, can lead to cancer (to be discussed in a subsequent article). Thiamine prevents this. A paper published in 2005, (from which Figure 3., is taken) details just how many mechanisms that lead to oxalate accumulation are initiated by low thiamine.

Figure 3. How Low Thiamine Leads to Elevated Glyoxal and Cancer

glyoxal pathways

The specifics involve a metabolic diversion that leads ‘food’ metabolites down what is called the glyoxal pathway, the pathway responsible for oxalates. Each of the red ‘X’s’ indicates an impaired thiamine dependent enzyme.

With Marginal Thiamine

Elevated glyoxal and methylglyoxal
- Diminished activity of thiamine dependent enzymes (transketolase, pyruvate dehydrogenase, branched chain ketoacid dehydrogenase, and a-ketoglutarate)
  - Low transketolase = low NADPH
  - Low NADPH = low glutathione (the primary detoxification agent in the body; glutathione also requires vitamin C)
    - Low glutathione = poor detoxification of glyoxal and methylglyoxal = increased carcinogenic protein adducts
- High Oxalate Foods
  - Glyoxal >glyoxalate > oxalates
Diminished pyridoxal kinase (PK) activity*
- *This is not discussed in the aforementioned paper, but should be included. PK is the enzyme that converts the inactive form of vitamin B6 (pyridoxine 5-phosphate) into its active form, pyridoxal 5-phosphate (P5P). Low P5P prevents glyoxalate from being converted back into glycine, leading to high oxalates. Many mistakenly assume that low vitamin B6 is responsible for high oxalates. While that is possible, it is also possible, and often more likely, that low thiamine is responsible.

With Sufficient Thiamine

Thiamine dependent enzymes work appropriately
- Sufficient transketolase activity = sufficient NADPH
Glyoxal and methylglyoxal are metabolized into other substrates and/or excess is detoxified
- Sufficient NADPH = sufficient glutathione
Glyoxalate is converted to a-hydroxy-b-ketoadipate or glycine and not oxalate
- Alanine glyoxylate amino transferase (AGT), the enzyme required to convert glyoxalate into to glycine instead of oxalate has sufficient activated vitamin B6.

This is not to say that there are not other vitamin and mineral deficiencies also associated with hyperoxaluria, there are. Research has shown that low magnesium (a requisite co-factor in many of same enzymes as thiamine), along with low vitamin A, in addition to the low vitamin B6, mentioned above play a role. Vitamin E may also be involved.

Take Home

The majority of modern illnesses are the result of poor diet and environmental exposures directly, cumulatively, and generationally. Over the span of a few short generations, we have forgotten that food is fuel and that good, clean, unprocessed food is required for health. The allure of processed foods and cheap agriculture through chemistry, has left much of the population starved of nutrients, while simultaneously bearing a high toxicant load. The result is all sorts of metabolic disturbances which may manifest as food insensitivities and intolerances. It is interesting to note that the metabolic changes involved in oxalate buildup do not require what we would consider a full-scale thiamine deficiency, but rather, a sort of thiamine insufficiency initiated by marginal thiamine intake, something that is likely common across populations.

A less complicated overview of the low thiamine > high oxalate connection can be viewed below.

Is Your Body Producing too much Oxalate?

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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Image: Scanning electron micrograph of the surface of a kidney stone showing tetragonal crystals of weddellite (calcium oxalate dihydrate) emerging from the amorphous central part of the stone; the horizontal length of the picture represents 0.5 mm of the figured original. Image credit: Kempf EK – Own work, CC BY-SA 3.0.

This article was published originally on August 15, 2019.

Introducing a New and Improved Thiamine Testing Platform

by Mahmood Bilal PhD, DABCC, FADLM, TS(ABB)

Published on March 20, 2025

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Introduction

It is my great to pleasure to introduce a new thiamine testing platform, the Erythrocyte Transketolase Activity Coefficient (ETKAC), offered by the Clinical Immunology Laboratory, in North Chicago, IL. ETKAC is a functional enzymatic test designed to evaluate the activity of the thiamine-dependent enzyme, erythrocyte transketolase, both in its resting/uninfluenced and activated state. Compared to other available thiamine testing assays, the ETKAC provides functional assessment of in-cell activated thiamine and evaluates potential abnormalities in thiamine-dependent enzymes. The test is currently available via physician request, but we hope to provide more direct access in the future.

What Is Thiamine Deficiency and Why We Need Better Testing

Thiamine (vitamin B1) is the precursor to the coenzyme thiamine pyrophosphate (TPP), also termed thiamine diphosphate (TDP/ThDP). It is an essential B vitamin in humans that is required for carbohydrate, fatty acid, and even protein metabolism. As such, it is critical for health and plays an important role in nerve function.

TPP, the bioactive component of thiamine, drives enzymes found in multiple metabolic pathways that include the pentose phosphate pathway, citric acid cycle, and glycolysis. In this way, thiamine contributes to the structure of the nervous system by inducing energy production (ATP), and synthesis of vital compounds such as lipids and acetylcholine. Without thiamine, mitochondrial respiration is suppressed and ATP capacity wanes.

Frank or severe deficiencies in thiamine result in Beriberi and Wernicke-Korsakoff Syndrome. These syndromes are well understood and, in some cases, can be attributed to alcoholism and malnutrition. Despite being well understood, frank deficiency may be missed clinically, especially in non-alcoholic and presumably well-nourished populations, but also in the early stages of the deficiency when symptoms may be attributed to other common disease processes. Some of the patient populations with underlying thiamine deficiency who may benefit from thiamine testing include those diagnosed or suspected of chronic fatigue syndrome, fibromyalgia, individuals who are diabetic, or who are experiencing neurocognitive or neuromuscular symptoms. Pregnant women should also be tested for deficiency, especially when hyperemesis gravidarum or pre-eclampsia are present. More information on patient populations affected by insufficient thiamine can be found here.

Unfortunately, traditional testing may miss subclinical, functional, and genetically-induced thiamine deficiencies. Plasma testing, for example, is highly susceptible to dietary fluctuations in thiamine. If an individual has recently consumed thiamine-rich foods, the test may indicate thiamine sufficiency, when in reality, the individual is truly deficient. Likewise, if the individual is deficient in magnesium, which is required to activate thiamine (phosphorylate free thiamine into the bioactive thiamine pyrophosphate or TPP) and/or the individual has a genetic defect that diminishes the activity of any portion of the thiamine metabolic pathway, plasma thiamine tests will appear normal even though the individual is deficient. With magnesium deficiency, free thiamine may be sufficient, but bioactive thiamine will be deficient. Similarly, with thiamine-related genetic variants, free thiamine and perhaps even TPP will be within range, but the ability to use thiamine effectively will be impaired.

Whole blood TPP testing, although more accurate than plasma-based assessment and not susceptible to fluctuations in dietary intake, is still problematic in some cases. It is susceptible to supplemental intake [Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, pg 661], which means that if the individual is supplementing with thiamine either alone or in a daily multi-vitamin, and/or is on a thiamine-repletion protocol due to a recognized deficiency, the testing may falsely indicate that he/she is no longer deficient, despite symptoms to the contrary. Since whole blood TPP assess the bioactive form of thiamine, TPP, it is more sensitive to some functional deficiencies. Unfortunately, it is not sensitive to whether or not the individual has the capacity to use that TPP because of genetic abnormalities or chronic health issues.

Measuring Enzyme Activity to Assess Nutrient Status

Rather than measure the nutrient in circulation, a more accurate form of testing involves the measurement of enzyme activity in erythrocytes or red blood cells. Since enzymes depend upon specific vitamins for functionality, when we measure the enzyme activity both in its basal state (resting/uninfluenced) and in response to the nutrient, we can reliably assess nutrient status. This will more accurately portray tissue concentrations than circulating concentrations. In that regard, enzyme activity tests are considered functional assessments of nutrient status.

Enzyme activity tests have been used for decades to assess a number vitamins and minerals. For example, glutathione reductase activity is used to measure riboflavin (vitamin B2) status. Similarly, the enzyme transaminase is used to measure vitamin B6 activity. Minerals like zinc and magnesium are best evaluated intracellularly instead of just measuring circulating levels.

To measure thiamine, the erythrocyte transketolase test is used. It was initially developed around 1962 and further improved and utilized through the 1970s. However, as time passed, the assay fell out of use in favor of the quicker and more cost effective, though less clinically sensitive, plasma and whole blood measures.

Recognizing the increased incidence of modern thiamine deficiency and a need for more sensitive testing, the scientists at the Nutritional Biomarker Laboratory (NBL), in the University of Cambridge, have developed an improved erythrocyte transketolase activity coefficient, or EKTAC, test. A slightly modified form of the NBL assay has been validated and applied at the lab in which I co-direct, Clinical Immunology Laboratory (CIL), in North Chicago, IL.

Evaluation of Thiamine via Erythrocyte Transketolase Activity

The transketolase enzyme is a TPP-dependent enzyme that can be found in the cytoplasm of a variety of tissues including blood cells and the liver. The Erythrocyte Transketolase Activity Coefficient (ETKAC) measures tissue level TPP as a function of transketolase ratio with and without the presence of exogenous TPP. That is, enzyme activity is assessed in its basal state and after TPP is added. If enzyme activity increases in the presence of TPP, it indicates deficiency. How much enzyme activity increases tells us how bad the deficiency is. Table 1. below shows the cutoff values between sufficiency and deficiency. The ETKAC range is well established in the literature and by the consensus of the clinical chemistry associations (AACC/ADLM).

Table 1. ETKAC reference ranges.

Thiamine Status	ETKAC
Sufficiency	<1.15 (less than 15% increase)
Insufficiency – Moderate Risk of Deficiency)	1.15-1.25 (15-25% increase)
High Risk of Deficiency	>1.25 (more than 25% increase)

When a Normal Transketolase Test May Not Be Normal

While the measurement of the transketolase activity in response to thiamine is among the most sensitive and specific tests of thiamine deficiency at the tissue level and its results tell us whether the individual is able to use circulating thiamine effectively, there are caveats. There are instances where transketolase activity in response to thiamine will appear normal or near normal (ETKAC values close to 1.0), but clinical symptoms and basal activity of the enzyme suggest problems with thiamine. This is because enzyme kinetics have been altered either genetically or environmentally. Some examples of conditions that alter enzyme kinetics include:

Genetic mutations: Some mutations in the transketolase enzyme cause a lower affinity of the enzyme to TPP. Here, the affected individual will show falsely normal ETKAC but low basal activity (i.e. without addition of exogenous TPP). In this case, the clinician can use this information to manage these individuals and potentially embark on genetic testing, when indicated by paying closer attention to enzyme basal activity.
Reduced transketolase levels. Individuals with chronic low levels of thiamine can undergo reduction of transketolase levels. This may show up as normal ETKAC but low basal activity. This effect seems to correct upon repletion of thiamine. In this case, an individual will have a normal ETKAC (close to 1.0) that eventually increases as transketolase enzyme levels increase; thus the deficiency is unmasked. This happens because of the increased expression of apoenzyme (non-thiamine bound enzyme) without concomitant increases of sufficient thiamine concentrations. After this, as the patient is more replete with thiamine, ETKAC corrects back to true normal levels near 1.0.
Increased ETKAC. Some patients with bronchial and breast carcinomas may have falsely elevated ETKAC. It is thought that this is likely due to conversion issues from thiamine to its TPP forms (active co-enzyme). Use of basal activity parameter in this case will assist in excluding the possibility of aberrant enzyme expression.
Additional nutrient deficiencies. Other nutrient deficiencies may affect total enzyme levels. For example, Vitamin D has been shown to increase the expression of transketolase by close to 4 fold (400%) in some in vitro studies. Similarly, if zinc or other gene expression factors are needed for transketolase transcription, then the same effect from the above point would occur until these factors are first addressed.
Clinical conditions and medications. There are known clinical conditions (e.g. liver disease, uremic neuropath, gastrointestinal dysfunction, polyneuritis, diabetes), and drugs that can reduce the levels of the apoenzyme.

It is for these conditions and potentially others, that assessing and reporting the basal activity of the enzyme, along with its activation quotient is useful.

How to Interpret Basal Activity Results

Although the cut-offs for basal activity are not as clearly understood as those for the ETKAC test, a value of 0.59 U/gHb or less has been shown to indicate thiamine deficiency across different patient populations. The Clinical Immunology Laboratory group has recently confirmed the lower limit of 0.59 U/gHb, and established an upper normal limit of 1.00 U/gHb.

Table 2. Proposed ranges for ETK basal activity tests.

ETK Basal Activity
Lower Cut-off	0.59 U/gHb
Upper Cut-off	1.00 U/gHb
Clinically Verified Cut-off for Thiamine Deficiency given Normal Enzyme Levels	<0.59 U/gHb

Conclusion

Thiamine, in its active form TPP, functions as a rate-limiting co-enzyme in multiple pathways related to carbohydrate and energy metabolism. Deficiency of thiamine results in a host of seemingly unconnected symptoms that range in severity depending on the degree and duration of deficiency. It is not uncommon for frank and subclinical thiamine deficiency to be missed due to the cluster of seemingly unconnected symptoms, but also because of unavailability of sensitive and accurate testing. The ETKAC assay has an advantage to other thiamine assays due to it being a functional enzymatic test that can detect transketolase abnormalities, as well as thiamine status, as discussed above. In contrast, directly measuring plasma thiamine or whole blood TPP can lead to false normal results or miss a functional deficiency, respectively.

The ETKAC and Basal Activity assays have not been readily available in the United States for clinical testing until now. The Clinical Immunology group in North Chicago, a high-complexity CLIA-approved laboratory, has recently validated an affordable, and easy to order ETKAC assay. The test currently requires ordering through a physician; however the laboratory is planning on providing a direct-to-consumer service in the near future. CIL’s ETKAC assay provides both quotient and Basal Activity parameters in order to give patients and doctors the results they need for appropriate treatment. More information about the test, the requisition and sample shipping instructions can be accessed through CIL’s webpage. CIL can be contacted for questions regarding ETKAC ordering and/or interpretation. More information about ETKAC can be found on the laboratory’s website.

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Breathing Easy With Thiamine Pyrophosphate

by John Rybicki

Published on March 19, 2025

11463 views

This is a strange and somewhat disgusting story about how a few B vitamins have worked better than a wide range of antifungals for chronic diarrhea and a long list of other symptoms that developed over time. In addition to chronic diarrhea, air hunger/difficulty breathing, foot drop, other classic symptoms of thiamine deficiency were present but not recognized by physicians. I discovered and have begun correcting my thiamine deficiency on my own with some success. Hopefully, the reader will see some unique solutions in the account, as I’ve had very significant degrees of success with the various treatments in the attempt to overcome this condition. For anyone else who thinks there is a better way, I’m all ears in the comment section. I’m not recommending anyone try what I did, I’m just providing an account of my situation and what I regard as some success.

Raw Veganism and My Slide Into Poor Health

When I was in college I read a recommended book called “fit for life.” It recommended a radical shift to all raw veganism. It advocated dropping meat for cashews, addressing concerns for protein adequacy with quotes such as “and if (as a result) your fingernails fall out, they will grow back in even better.” I was extremely healthy, athletic, and had everything to lose, and I did lose everything following that advice. Mind you, I wasn’t doing it to spare the animals, I just thought I’d have some crazy edge on being healthy.

At some point while on this diet, I developed chronic diarrhea. Maybe some of those fantastic raw veggies were contaminated or maybe my immune system was compromised from other possible resulting nutrient deficiencies. Whatever the reason, I was stubborn and foolishly didn’t take the obvious net result of that lifestyle choice into consideration and I got used to living with severe diarrhea. By the time I had shifted gears and started getting things like salt, heme iron, complete protein, etc., I discovered that the symptoms remained.

At the height of my illness, I would have to run to the bathroom seven times a day. I’ve had plenty of jobs where that causes a lot of problems. I finally went to the doctor because it was so bad. My stools were bright yellow, so they were submitted for a stool pathogen test. It came up negative. He made an appointment for me to see a specialist in 6 months at the earliest. I was desperate, but I took the 6 months to wait and did not try and fix the problem myself. Maybe that was a mistake, but then again, I was never loaded up with antibiotics on a whim, so who knows maybe it was a blessing.

The Progression of Thiamine Deficiency Symptoms

Diarrhea and discolored stools began 20 years ago when I began the raw vegan diet. I was on this diet for a little over two years, before I changed course and began eating meat again. Since starting the raw vegan diet, and over the course of time, either more symptoms developed, or I just became more aware of them. The symptoms included breathing difficulty or air hunger, seemingly less sweat, and very frequent urination at times. In addition, I seemed to get cold easily despite having very high concentrations of the thyroid hormone triiodothyronine (T3) on lab tests. I also have bleeding gums, very sore soles of my feel (it is almost impossible to walk on a beach covered in seashells), significant loss of visual acuity in my left eye, a pronounced sense of difficulty keeping my eyes straight when tired, and an occasional sense that my feet are dragging. My foot would occasionally drag on the ground as if I had neglected to move it properly. I feel that I have a greater sense of the right side of my body over the left. During this time, I also noticed a reduction in earwax, particularly in my left ear, a reduction in fingernail growth, at least compared to when I was in college, and I sense a dullness where either my spleen, pancreas, or stomach is. My skin was dryer, and no longer oily. Often, I would have dandruff. For a long time, I could get dizzy upon standing. Also, I realized the constant body aches I felt were always present and not the result of delayed onset muscle soreness from my regular training. I was tired all the time. People would tell me it’s healthy to sleep if I was tired, but I found I felt just as bad sleeping 12 hours as I did after sleeping 4. I could sleep 17 hours, get up to eat, and go back to sleep. It was ridiculous, not to mention I had to economically survive, so instead of sleeping all day I began working 2 and 3 jobs at a time and resolved to spend the money experimenting on supplements.

Discovering Thiamine Deficiency

In addition to the stool test for pathogens that came up negative, I got a Spectracell test to assess my vitamin status. I was beginning to believe that nutrient deficiency was involved in my illness. After all, two years of a raw vegan diet, I lacked a number of critical B vitamins. I chose a Spectracell test, as opposed to a standard blood test because it is supposed to be more accurate. The makers of Spectracell argue that standard nutrient blood tests are inaccurate because they only show what’s in your blood at the moment, whereas the Spectracell method feeds nutrients to a culture of your white blood cells and extracts nutrients one at a time. If the culture dies too early from withdrawing a nutrient, they say that you need that nutrient. My test said I needed thiamine and vitamin B5. I don’t know if the usual vegetarian deficiencies were present at any time, because I had long since thrown supplements such as methyl folate, methylcobalamin, and Albion iron in a bid to resolve the problem, none of which had any effect after extended use. My testosterone, as of 2 years ago, was at 650 ng/dL. Every blood sugar test I take at the supermarket, says I’m in the normal range, but I exercise regularly. Supermarket blood pressure readings are never high, always in the low to normal range.

Successes, Failures, and Odd Results

If you managed to make it through the symptoms section, this part should be a relief as I’ve had a lot of success, some of which helped but had to be discontinued for one reason or another. That said, I’m not advocating anything I tried here, and people should discuss things with their open-minded health professionals before trying anything.

Antifungals and Herbs

Some herbal measures of note were undecanoic acid. This worked for the breathing but was intolerable to the GI tract. Tudca, and a particular standardized artichoke extract normalized stool color, helped tremendously with breathing, helped with energy but caused tremendously unbearable diarrhea. Turpentine mixed with olive oil taken with meals helped with breathing a little but reduced my energy and worsened diarrhea.

At one point, I took a black-market antifungal after I read how it acted on the cholesterol portion of a fungal infection and didn’t pose a threat to the healthy gut biome (if I had any left.) It helped a lot on the digestion, only as long as I took it. It didn’t help with the breathing but slowed the bowels. My stools were better formed, but for some reason, the last portion of them was still yellow. I took a meningitis dosage of fluconazole for 8 weeks and a few days after stopping it, the digestive symptoms totally returned. I tried another cycle some months later and stopped after a few weeks when it didn’t work anymore.

Probiotics

Mega-dosing probiotics helped a little. There is a site that sells powder with doses of 400 billion (compared to the 1-60 billion in stores). Acidophilus helped the most, but also aggravated the breathing problem severely. Other strains had no negative effect on my breathing. An example of a probiotic that had a semi-stabilizing effect on my digestion would be acidophilus at 1600 billion CFU’s/day. Unfortunately, it became extremely difficult to breathe when taking it. Not sure if it is the d-lactate content or the fact that some strains are histamine producers and others are histamine degraders. An example of a probiotic that didn’t cause breathing difficulty at any dose would be l-Plantarum. The manufacturer who sells these bulk probiotics describes acidophilus as a strain that produces d-lactate, and as I never developed air hunger from, say, a histamine-producing strain like thermophilus (although thermophilus never improved my digestion). I’m more inclined to think the issue is one of d-lactate and not about histamine. That said, below is an interesting chart from the book “Fix your Gut” by John W. Brisson.

histamine modulators — Histamine modulators and degraders from: Fix Your Gut by John W. Brisson.

Probiotics stopped me from running to the bathroom several times a day, even after discontinuing them, but they weren’t a fix. I don’t take them anymore.

Digestive Enzymes

One of the biggest things to help was the digestive enzymes that I took but it took some trial and error to figure out which ones worked best and at what dose. When I took too much or the wrong ones, it worsened my GI symptoms. I tried a very high-dose amylase pill (4 x 200mg per meal) and then incorporated the full dose of lipase from the same brand. I realized that there was definitely a lack of digestive enzymes, but that I reacted poorly to protease, which is included in most enzyme products. I can’t underemphasize how helpful taking enzymes in high doses without protease has been. I’ve tried to incorporate protease on several occasions. It is available in a 400k potency strength down to around a 50k potency. After reading the success of one reviewer on Amazon, I tried to power through the bad symptoms caused by several high potency proteases, because I believed it would be effective against infection and probably a premier defense against pathogens in the bowels, but it always resulted in diarrhea, lots of slime, and eventually, I would start to see specks of blood.

Strangely, at a lower dose of protease, the outer edge of my thumb and index finger would dry up. It’s a weird reaction considering all kinds of people can take a lot of proteases without any issues. For an extended period of time, I backed down to the one brand that has 50k potency, which I can tolerate somewhat, although it caused a rushed bowel sensation. Ironically, the one I’m happiest with is the strongest one I’ve taken, as it doesn’t seem to cause any of the side effects. The problem with tolerating a protease might be like what the protease-producing fungi were fed to produce protease in response to. I don’t believe trace elements of fungus are causing a problem in widely circulated brands in my case, as I can tolerate fungal lipase and amylase with no problems, but a probiotic protease cultured to digest wheat and milk proteins caused big problems for me. The high potency brand of protease I’m taking is tasteless, reduces bloating, and unlike the other proteases I’ve taken, it helps digestion, particularly with stool formation.

Navigating Nutrient Repletion

I became more interested in thiamine when I took a supplement called N02, which was a bodybuilding supplement consisting of a large dose of arginine that resulted in more vasodilation and more carbohydrates going toward glycogen. It provided a very pronounced benefit for me in terms of muscle-pump/glycogen storage, but the label said: “not for those who are thiamine deficient.” While I wanted to enjoy the benefits of the supplement, or now something I like better such as citrulline peptides or a 20-gram dose of beet powder, it made me unusually sleepier, and it caused extreme dryness on the left side of my neck every time. I wondered if I had this unusual reaction because I was low in thiamine. I now attribute the complications I noticed taking “pump” products to be the result of improved circulation causing an increase of infection into my bloodstream, as the problem is greatly reduced by the high potency protease I’m taking. I had tried thiamine several times, but in pill form at 100mg doses, which may not have been enough. I began looking for a good coenzyme thiamine powder, which I found. At that time, I also found acetyl coenzyme A powder at $2000/kilo -seriously. I bought them both.

I decided to only use coenzymated B vitamins – vitamins that are in their active form used by the enzyme – after reading this study on PubMed: The vitamin B6 paradox: Supplementation with high concentrations of pyridoxine leads to decreased vitamin B6 function – PubMed (nih.gov)

Vitamin B6 is a water-soluble vitamin that functions as a coenzyme in many reactions involved in amino acid, carbohydrates and lipid metabolism. Since 2014, >50 cases of sensory neuronal pain due to vitamin B6 supplementation were reported. Up to now, the mechanism of this toxicity is enigmatic and the contribution of the various B6 vitamers to this toxicity is largely unknown. In the present study, the neurotoxicity of the different forms of vitamin B6 is tested on SHSY5Y and CaCo-2 cells. Cells were exposed to pyridoxine, pyridoxamine, pyridoxal, pyridoxal-5-phosphate or pyridoxamine-5-phosphate for 24h, after which cell viability was measured using the MTT assay. The expression of Bax and caspase-8 was tested after the 24h exposure. The effect of the vitamers on two pyridoxal-5-phosphate dependent enzymes was also tested. Pyridoxine induced cell death in a concentration-dependent way in SHSY5Y cells. The other vitamers did not affect cell viability. Pyridoxine significantly increased the expression of Bax and caspase-8. Moreover, both pyridoxal-5-phosphate dependent enzymes were inhibited by pyridoxine. In conclusion, the present study indicates that the neuropathy observed after taking a relatively high dose of vitamin B6 supplements is due to pyridoxine. The inactive form pyridoxine competitively inhibits the active pyridoxal-5′-phosphate. Consequently, symptoms of vitamin B6 supplementation are similar to those of vitamin B6 deficiency.

I honestly don’t know if complications with non-coenzymated B6 occur similarly with other non-coenzymated b vitamins. With B1, I know that we do have extracellular coenzymated thiamine circulating in our blood. So-called coenzymated B complex supplements contain an unknown mix of coenzymated B’s with a majority of those same B vitamins in their non-coenzymated forms. Some B vitamins are never, or rarely, sold purely in their coenzymated forms, such as with thiamine and B5. Thiamine pyrophosphate bulk powder is hard to get. When someone writes about how they tried thiamine pyrophosphate and it didn’t help, I’m skeptical because it sells in tiny doses and I imagine people rarely give it a fair shake in large dosing protocols. Nobody sells coenzyme A, not even a brand ironically named “Coenzyme A Technologies” which just sells a precursor pantetheine in a very small amount.

Adding Acetyl-Coenzyme A, Thiamine, and Other B Vitamins

Initially, I worked with acetyl-coenzyme A. I ended up taking an estimated 600mg transdermally several times throughout the day with great success. To do this, I would splash some water on a thin-skinned area such as my shin or forearm and pour the powder onto the wet area before rubbing it in. There is a trick to make sure that there isn’t too much water being used and to also make sure the dose doesn’t splash everywhere. I would follow that with a DMSO cream. For those of you who don’t know, DMSO supposedly drives nutrients through your skin better. There are products that claim 99% absorption when DMSO is added, whereas without it the area would eventually lose the ability to keep absorbing a targeted nutrient after a few days, and it would just evaporate. DMSO smells horrible, so much so that this procedure isn’t possible unless you use the brand that has mixed it with a rose scent, which doesn’t smell bad at all. This basically resolved the exhaustion problem I have, particularly with regards to wakefulness/motivation.

Typically, I wake up more tired than when I went to sleep, but I have to work out at 7 am. I rub this into my skin and within 20 minutes I’m totally awake. It’s not a stimulant feeling, it’s just that suddenly sleep isn’t an option and attempting to sleep becomes annoying. I’ve also benefited from this during what may have been a thiamine paradox reaction, which in my case manifested as extreme tiredness and a definite drop in mood. It has taken 1-2 doses of acetyl coenzyme A about 1 hour apart to climb out of that, which otherwise could have easily lasted 4 hours. I can’t speak as to whether this overcomes normal tiredness, as again I have otherwise abnormally extreme tiredness. Unlike caffeine though, acetyl coenzyme A is a big part of the Krebs cycle, and niacin is too inflammatory for me; even niacinamide causes my nose to get very runny and I just don’t feel like inducing a histamine reaction is a good idea. Acetyl coenzyme A gets around that. Also, I remember a book called the Ultimate Healing Guide by Donald Lepore who was administering 9 grams of B5 a day in some cases, which always made me question how effective calcium pantothenate or pantethine is. That said, I can see why people don’t sell Acetyl coenzyme A. Long story short, it has to be sealed and at the very least refrigerated.

I also began using thiamine pyrophosphate powder. I take this transdermally as well. It has profoundly improved my breathing and given me a lot more oil or moisture to my skin. I’ve noticed sporadic increases in saliva, which I regard as healthy given that I produced a lot when I was a healthy kid. I’ve noticed my workouts have improved as well. I lift weights and my sets are a lot closer together now and I have more of a muscle-pump/glycogen storage during my workout which buffers the unpleasantry of moving all that heavyweight around. I’m taking approximately 600mg 4 times a day following meals and protein shakes. I don’t take it on an empty stomach. I believe a higher dose would further improve saliva production and breathing and I am presently taking it slow getting to that higher dose.

I noticed I don’t have improved breathing if I stop taking the high potency protease and interestingly, my breathing is terrible if I take the protease without the thiamine. I’m speculating that the protease is having a huge antipathogenic effect, which may reduce hydrogen sulfide gas and possibly compromise the thiamine I’m taking. Another possibility I’ve considered is that the protease causes enough of a reduction in the pathogens that the thiamine effects can be observed and are otherwise drowned out by an overwhelming amount of histamine or whatever is causing the breathing shortage. I’ve noticed also that any drowsiness or drops in mood seemingly caused by high doses of thiamine pyrophosphate (perhaps due to improvements in circulation and which an infection is also able to take advantage of) are negated when I take the high potency protease. Thus, I would attribute those symptoms to the infection I likely have.

I’m also taking p5p, which has a kind of nerve stimulation benefit to it for me. I take 20mg sublingually every three hours. At one point early on, I couldn’t tolerate 40mg without feeling like the contents of my bowels were sliding through me (followed by diarrhea), 20 mg wasn’t a problem though. I feel the p5p is synergistic with the acetyl-coenzyme A.

I also take R5P at 50mg 4x a day with meals. Not sure it helps, but I read it helps with the coenzymation of the other B vitamins.

In total, these four B vitamins have reduced my bleeding gums to less than 2-percent of what it was. They have reduced the soreness in the bottoms of my feet, drastically improved my energy and motivation, drastically improved my breathing, and improved my athletic endurance/muscle glycogen. I noticed a pronounced reduction in the frequency of urination, earwax production has increased, particularly in the left ear where it was reduced.

Theories

I have listed some theories below with my own observations notating them. I’d like to hear other opinions. Disagreements are definitely welcomed.

Was my problem a result of too much flora lost from chronic diarrhea, which led to fungal overgrowth, which led to hydrogen sulfide, which then continuously degraded my thiamine?
- There is a book online Fix Your Gut by an author I felt has some insight that says fungal infections reduce both thiamine and b5. My Spectracell test showed I wasn’t low in anything else but those two nutrients.
Was the paradoxical effect from thiamine that resulted in exhaustion and a drop in mood from the improved circulation generated by an increase in nitric oxide or other means? Did this then allow the already-present fungal infection to enter the blood and cause mood problems and exhaustion?
- I would support this theory by mentioning how taking nitric oxide supplements (i.e., citrulline peptides, beet powder standardized for nitrates) also resulted in this exhaustion as well, where it becomes difficult to keep my eyes straight. I would also support this saying that the high-potency protease I take, which I regard as a strong anti-fungal, negates that complication.
Is the acetyl-coenzyme A is only helping because it is circulating pathogens or their chemical excretions from my blood? I’ve been doing it for many months, and it isn’t like I’m needing less of a dose or less frequency, which I would imagine someone would see if they were addressing a deficiency. I suppose it is possible the extra amount is needed due to possible ongoing fungal problems.
Was the lack of enzymes caused by an infection in this case and not by a lack of vagus nerve stimulation? Ultimately, I’d like to be producing my own enzymes and I feel being able to do so gets me closer to the cause of all this. I suspect a fungal infection can somehow offset the necessary stimulation nerves normally receive, and ultimately compromised my pancreas if it wasn’t compromised in other ways by an infection. I don’t have any sharp pains consistent with severe pancreatitis, just a reoccurring dullness in the area. I’ve tried a number of nutrients to increase nerve stimulation with no effect and imagine if there is an issue here with the vagus nerve, it is more directly caused by complications from an infection.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This story was posted originally on March 28, 2022.

Notes On Thiamine Status During Pregnancy

by Chandler Marrs, PhD

Published on March 12, 2025

4187 views

Currently, I am researching thiamine status during pregnancy for a series of articles to be published by the newly formed Thiamine Advocacy Foundation. Over the next few months, I will be publishing snippets of that research, and of course, when the project is finished, I will let everyone know and provide links to the articles. Today, I want to discuss a study published in 1980 about thiamine deficiency in pregnant and non-pregnant women.

For this study, the thiamine status of 60, presumably healthy, pregnant women was assessed across multiple times points (second trimester, third trimester, and in the immediate postpartum. Not all women completed all assessments. Food diaries were collected for three days preceding each test time to identify thiamine intake and a lifestyle survey to assess contraceptive use, smoking and alcohol history was given. Samples and diaries from 20 non-pregnant women were collected as well.

To determine thiamine status the erythrocyte transketolase test with thiamine pyrophosphate activation was used. This is among the reasons I found this study useful. It is only one of only a few studies of this population using the transketolase test. Recall from Dr. Lonsdale’s discussion Understanding the Labs (and here), the transketolase test is arguably a more accurate measure of thiamine status than plasma, serum, and some measures using whole blood.

Using the transketolase test, researchers found that 30% of the non-pregnant women were deficient in thiamine as were 28-39% of the pregnant/postpartum women depending upon the phase of pregnancy. Importantly, not all women were deficient at all test times. This means that the deficiencies likely waxed and waned relative to other variables like intake and stressors. Intake was considered sufficient in all but 10 of the women and for those 10 women it was only minimally below the RDA. Additionally, the researchers reported that previous oral contraceptive use had no apparent effect on thiamine status during pregnancy but that there was a trend for an increased risk of deficiency with previous pregnancies.

While this was a small study, the percentage of women who were deficient in thiamine was striking, especially the non-pregnant controls. If thiamine is deficient before pregnancy, the risk of severe health issues across pregnancy increases. Here though, none of the women who were deficient in thiamine displayed the classical symptoms of thiamine deficiency, although details were lacking. Moreover, all of the women delivered presumably healthy children, or at least healthy weight children, as other parameters were not measured. Again, this finding is important because it suggests that either 1) what we expect to see with deficiency during pregnancy is not completely accurate, 2) that the persistence or chronicity of the deficiency matters, and/or 3) that it is not simply a deficiency in thiamine that causes some of the more severe complications of thiamine deficiency during pregnancy.

I have written previously about the mismatch between classically defined symptoms of thiamine deficiency and what we are more likely to see with modern diets and stressors. I suspect this applies to pregnancy as well. I have also written about how thiamine status is likely to change relative to intake and demand. Rodent studies have shown that the typical neurological symptoms of deficiency do not appear until there is 80% decline of thiamine stores. Since we store a little over two weeks of thiamine, one would have to completely eliminate intake for more than a week before those symptoms might emerge, and even then, it might be a while before they were recognized. This is certainly a factor with hyperemesis gravidarum, the severe vomiting that some women experience during pregnancy but perhaps not in non-HG related pregnancies.

It is important to note, however, HG and thiamine deficiency go hand in hand. Thiamine deficiency, along with other deficiencies, may trigger HG (think gastrointestinal beriberi) in the first place, and once the vomiting begins, will easily deplete thiamine stores. None of the women in the current study developed HG, however, or other complications, so that leads me to believe, that we need additional triggers and we need persistent or chronic thiamine deficiency before noticeable complications arise.

In this study, all we have are indications of deficiency at specific points in time. We have no evidence of how long those deficiencies were present or whether other variables were somehow buffering maternal and fetal health such that the typical complications associated with thiamine deficiency were not observed. Even so, a finding that upwards of 30% of a test population of women, both non-pregnant and pregnant thiamine deficient speaks to how common this deficiency may be and how close to the precipice of more severe health issues a percentage of the population resides. Although observable changes in health were not reported or perhaps even recognized in this report, knowing what we know about thiamine’s role in energy metabolism, it is not unlikely that there were many negative metabolic patterns brewing just below the surface.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This article was published originally on November 29, 2023.

Refeeding Syndrome in the Context of Thiamine Deficiency

by Derrick Lonsdale MD, FACN, CNS

Published on March 6, 2025

37418 views

Refeeding syndrome in thiamine deficiency

Although this has been mentioned many times in posts and in the comments of readers on this website, there still seems to be a lack of understanding. The commonest complaints have been that “thiamine caused side effects” or “I was allergic to thiamine”, inevitably causing the complainant to discontinue it. I want to emphasize the important meaning of these seemingly adverse effects by illustrating a typical case in my own experience. First of all, please understand that thiamine deficiency has its major effects in the lower part of the brain. It is this part of the brain that controls the automatic (autonomic) nervous system that orchestrates the functions of all the organs in the body. Thiamine deficiency has its dominating effect by damaging this system and the result is known as dysautonomia.

Recognizing Thiamine Deficiency Syndromes

One day I was in conversation with a young woman and was trying to describe the huge number of symptoms that result from dysautonomia. When I finished listing them, I was surprised when she said that I had exactly described the symptoms that she had suffered for years. I had no prior knowledge of this, believing that she was completely healthy. She told me that this polysymptomatic condition had been present for as long as she could remember. Apparently it had never been understood by any physician that she had consulted and she had come to accept that it was “just the way that I am made”. She was in her early thirties and it must have required a lot of courage to do the work for which she was employed. Unrelenting fatigue dominated her life, and this is a major clue to her problem.

Symptom Exacerbation: Refeeding Syndrome

I advised her to start taking thiamine and magnesium supplements, starting with a low dose and advising her that the symptoms would become worse for an unpredictable period of time (refeeding syndrome). Note that this individual was known to be intelligent, was fully employed and that nobody was apparently aware that she had any health problems. Later she told me that after she started the supplements, for a month or more she had suffered an excruciating exaggeration of her many symptoms. Trusting that I knew what I was talking about, she persisted with the supplements. This is of great importance because without this information it might be interpreted as “side effects” and the nutrients withdrawn. It also would probably accompanied by anger and the ultimate symptomatic relief never experienced. Using her own words she then said “after about a month of taking the supplements, all my symptoms disappeared and my energy was better than any that I had experienced in my whole life”.

I will try to interpret what was happening here as an example of refeeding syndrome. It is important to understand that the many symptoms experienced by this woman were due to cellular energy deficiency in the brain. Their variability may have included emotional symptoms such as anxiety, depression, or anger without obvious cause because they would be the result of exaggerations of normal brain activity. The lower part of the brain is highly sensitive to energy deficiency and because it organizes all bodily functions, it can give rise to heart palpitations, chest pain, unusual sweating, pins and needles in the extremities, nausea, abdominal pain, vomiting, insomnia, constipation, diarrhea, or abnormal sense of balance including vertigo. Body pain that has no observable cause (hyperalgesia) or a pain response from a stimulus that does not usually cause pain (allodynia) may occur.

Refeeding Syndrome in Children

A 14-year old boy with sugar induced thiamine deficient eosinophilic esophagitis suffered agonies of hyperalgesia and screamed when I touched his abdomen (allodynia). Postural Orthostatic Tachycardia Syndrome (POTS) is quite a common variant which is particularly frightening to the patient. Let me emphasize once and for all, when symptoms like this go unrecognized, sometimes for years, they become temporarily exaggerated if the necessary nutrients are provided in too high a concentration. Whether this be a single vitamin, a group of vitamins or whole nutrition, this syndrome must be expected. A gradual introduction of the appropriate nutrients is mandatory. Because thiamine is so integral to energy metabolism, I found over the years that it was the most important. Because young children have not been exposed to malnutrition for too long because of their age, refeeding syndrome is seldom if ever encountered. The syndrome is directly related to the time of exposure to malnutrition and its severity. It is therefore an effect in adults and occasionally in adolescents..

Whether intelligence is a genetically determined gift or whether it is acquired during life, the brain consumes a disproportionate degree of energy that can only be met by an appropriate ingestion of food and water. If this is inadequate, symptoms begin to register the inadequacy by producing a sense of fatigue as the dominant one. It is the way that the brain signals its lack of cellular energy. The symptoms are easily removed if the underlying cause is recognized early. Because in many cases they are not recognized and the malnutrition may continue, it is not very surprising that cellular damage would be expected gradually to accrue. Perhaps chronic neurodegenerative disease may follow.

From Catabolic to Anabolic Metabolism

The normal states of damage and repair (anabolic metabolism) would be inadequate and a state of gradual breakdown and inadequate repair would be predicted (catabolic metabolism). Because thiamine deficiency causes the condition known as beriberi, I would like to state once more that the English translation of this Chinese word is “I can’t, I can’t”, severe, intractable fatigue being the dominating effect. Although the refeeding syndrome is poorly understood according to current medical literature it is apparently related to a rapid change from catabolic to anabolic metabolism. The misguided attempts to re-nourish the victims in concentration camps at the end of World War II resulted sometimes in their death. It is at least understood that correcting catabolic to anabolic metabolism, whatever produced the abnormal state, demands low doses of food in starvation and low doses of supplementary vitamins in the long term effects of high calorie malnutrition.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

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This article was published originally on January 6, 2020.

Rest in peace Dr. Lonsdale, May 2024.

Longstanding Thiamine Deficiency Ignored By Doctors

by Jane Finn

Published on February 10, 2025

30911 views

Thiamine deficiency isn't all in your head

I would like to begin sharing my story, hoping to help others. My journey is from a nurse’s perspective. I recently learned I am thiamine deficient and likely have been for years. Thiamine deficiency affects the mitochondria, causing a disease process known as beriberi. Beriberi mimics many other illnesses, making it very difficult to diagnose. Let me begin by giving you a background about the woman I was before thiamine deficiency depleted my entire being.

I have always been highly driven. I am perfectionist to a fault. I was an honor student in high school, an active- athlete, a cheerleader for four years. I loved swimming, ice skating, rollerblading, skiing, and all sports. I led many extracurricular activities throughout high school and college. As the oldest of 5 siblings, I was the family leader and caregiver as well. I was always strong mentally and physically. I had survived spinal meningitis at age 5 years, after receiving my last rites while hospitalized in isolation several months. I lost my father shortly thereafter, but I survived.

I was a successful RN for nearly thirty years; a gynecological oncology nurse the first 20 years, and a postpartum nurse caring for mothers and their newborns the last ten years. I was married and had two children and even though I worked full-time, I was an avid volunteer, for activities involving both daughters through their elementary and high school years. I was the first and only woman president of my neighborhood association, organizing many monthly events throughout the year. I cared for my mother through ten years of Alzheimer’s. No family member was hospitalized without me as their private duty nurse advocating. I cared for my father in-law through colon cancer, then moved my mother-in-law in with us for 15 years after he died. I watched over her into her 90’s. Then I suffered loss upon loss: my mother, my father-in-law, several aunts, and two beloved family pets, followed by an awful divorce from my high school sweetheart.

Looking back, I understand why my marriage fell apart, I became a woman I barely recognized. I was in pain all the time. I was tired unable to be the “active fun loving Jane,” I had once been.

In 2006, I developed degenerative disc disease (DDD) in my neck, which ultimately led to a cervical fusion. Nevertheless, I returned to hospital nursing 8 weeks later and worked until I could no longer get through the nonstop days without pain. My nursing manager talked me into management after 28 years as a bedside nurse, which I loved. Then, I suffered a lower back injury that, together with my neck issues, incapacitated me from my nursing career. After losing my career, my marriage, and my home, I moved away from the home town which I loved. Multiple losses, stressors, and what I now believe was thiamine deficiency had me suicidal.

I tell you this, because the thiamine deficiency was insidious. It accrued over time. I was performing and had more energy than most… until one day, I didn’t.

My Silent Demise: Unrecognized Thiamine Deficiency

As I mentioned above, I developed DDD in 2006, and as result, I have suffered for years with intermittent nerve pain and muscle weakness. Over the years, the pain and weakness progressed to the point where by 2019, I could no longer walk or function. I had great fatigue, insomnia, depression, anxiety, and lack of energy. This was in addition to GI distress and signs/symptoms of IBS irritable bowel syndrome. I also had serious bladder issues of great urgency, leaking and even incontinence at times. Over time, I developed significant brain fog and cognitive difficulties. This included a “loss of words,” an inability to read and retain information or eventually, to write; all of which I had always loved doing. I began having memory issues and my nervous system seemed to be shutting down.

Looking back on my history, I had been hospitalized for chest pain 3-4 times ruling out pulmonary embolism or heart attacks. I have had a vitamin D deficiency for over 10 years despite supplementation and good diet and plenty of sunshine. My platelets ran high on and off for years. A hematologist ruled out many disease processes through lots of blood work. He even did a hip bone marrow aspiration and never found answers.

My blood pressure at one point was 200/100. I had tachycardia documented on EKG and on my own nursing checks. Heart palpitations were common. I sought the care of a few cardiologists over the years and had a number of cardiac tests all with no answers. I was frequently dizzy, seeing stars, and nearly passing out on many occasions. Five years ago, I was severely depressed and suicidal. I had lost so much weight, and looked anorexic at 108 pounds. Looking back, I have no idea how or why I had such rapid weight loss. Then the weight issue shifted.

By the end of last year, I had difficulty walking. I gained weight and have now been walking that fine pre-diabetic stage. I seem to be insulin resistant now. Added life stressors, once again caring for my sick and aging 81 year old aunt with multiple medical issues, has led to self-neglect. I became short of breath on exertion, weak and faint. I began losing my hair. Thankfully, I once had a thick full head and so the hair loss was not immediately noticeable. Even so, I noticed, and I begged my doctor to help me learn why my hair was falling out and thinning so much but my concerns were made light of.

I pleaded with many doctors, asking to learn the cause of my multi-organ system’s failings. I suspected they were medication effect or vitamin deficiency related but several good doctors rolled their eyes when I begged to be tested.

I grew weaker and weaker, sicker and sicker as 2019 came to an end.

The Laundry List of Tests and Doctors Conclude: It’s All in My Head

An MRI in January 2020 showed cervical myelopathy but not significant enough to warrant more surgery (THANK GOD). The orthopedic surgeon and his nurse practitioner, offered Gabapentin (as did 5 other doctors) and physical therapy (PT). I refused the gabapentin because it had made me incoherent in the past. I agreed to try PT but was frustrated, since I had tried physical therapy more times than I can tell over the past ten years. This last time, in February, just the PT evaluation magnified all my symptoms and I barely walked back to my car. Returning to my vehicle, I felt like I was on fire with burning nerve/muscle pain all over.

Again, I adamantly refused meds without learning the cause.

I was sent to have an EMG (nerve-muscle functioning testing). The EMG showed multi-nerve damage, or “multiple peripheral neuropathies.” That was in March of this year. I had been twice before to this same physiatrist having EMG’s years prior due to ongoing “nerve pain.” Like many other doctors, he never suspected thiamine deficiency and implied that it was “all in my head.”

I was sent to another consult, a Brown University rheumatologist, who basically told me the same thing that my pain was “in my head,” as most docs do seeing history of “depression and chronic pain.” On exam, I actually jumped when he touched my outer thighs and various areas on my body. I was super “nerve sensitive,” which he was attributing to “my mind.” Outer thigh pain/ sensitivity was a symptom of thiamine deficiency I’d later learn. After my RN daughter, acting as my advocate, spoke on my behalf asking for nutritional deficiency testing to rule out causes, he tried ordering labs but had little knowledge of what to order and “could not find the transketolase test or a simple Vitamin B1 test on my screen,” he replied. To appease me, he ordered multiple other labs and sent me on my way with no diagnosis and no return appointment.

For the multitude of GI symptoms, I was sent to a caring gastroenterologist who performed a colonoscopy and endoscopy with insignificant results and biopsies all normal. He too was empathetically puzzled, urging me to request a thoracic MRI due to my history of degenerative disc disease. Upon exam, this doctor was alarmed at my sensitivity at my breastbone area when touched. It was painful and clearly inflamed.

I had all the symptoms of multiple sclerosis (MS) too, so I had a brain MRI with and without contrast that I asked for after researching my symptoms, wanting to rule out MS too. The MRI showed: “a single small focus of flair hyper-intensity within the frontal lobe white matter, nonspecific and could not rule out demyelinating disease or MS…”

They ruled out “pinched nerves” in a thoracic MRI, recommended by the GI doc after not finding answers to my GI symptoms. I had repeated X-rays and a lumbar MRI having a lengthy history of lower back pain too.

The lumbar MRI incidentally found gallstones which sent me to a surgeon who recommended gallbladder removal. In this COVID environment, I have minimized symptoms with better diet and supplements thus far.

Discovering My Thiamine Deficiency: A Bit of Research and a Bit of Serendipity

In February 2020, I had begun reading the book “Thiamine Deficiency Disease, Dysautonomia, and High Calorie Malnutrition,” written by Dr.’s Lonsdale and Marrs. From the case studies and the research, I knew that I had thiamine deficiency. The trick now was to get someone to believe me. I brought the book to an upcoming neurologist appointment. Although, with each of the 7 previous consults, blood work was done, it was this last consult, with an astute neurologist, that I found out why. He knew after examining me and listening to me that I was deficient in thiamine. He took the time to research my history and found that I’d been diagnosed as thiamine deficient 5 years ago, but sadly, no one told me. In 2015, lab tests showed that my thiamine was 6 nmo/L , below the lab’s reference range of 8-30 nmol/L. I was still deficient in thiamine in February 2020 with a result of 7 nmol/L. He explained that I “needed to take 100mg thiamine daily, starting immediately and that it would likely take 6-12 months to hopefully reverse symptoms.” He also indicated that I would need supplementation for life now. As I have continued to research and read about thiamine deficiency, I learned that I would likely need much higher doses of thiamine, in the form of something called TTFD. TTFD is a synthetic thiamine that crosses the blood brain barrier getting into the cells better.

A Possible Family History of Latent Thiamine Issues

I continued reading, researching, and learning from case studies and groups. Thiamine deficiency is much more common than thought today. It can be passed on at birth in an unknowing deficient mother. Looking back, I fully believe my mother was deficient given her history of problems in school, high anxiety, and severe depression on and off for years. Her symptoms worsened with divorce when she was still pregnant with her fifth child. Each of her children were born only 12 – 13 months apart! I recall her getting dizzy, feeling faint often. She suffered with leg pain for years.

I am most concerned over the genetic factors influencing me and my family. The first stages of thiamine deficiency see thyroid issues, which my mother, sister, and aunt all had/have. Diabetes runs in my family: my grandmother, aunts, sister, and I’m now at the pre-diabetic stage. Cardiac issues are often seen: my grandmother, mother, aunt, and I have had them. GI issues also are noted in multiple family members. The most worrisome disease is Alzheimer’s disease, which is often seen in late stages of thiamine deficiency according to research. My grandmother, mother, many of her sisters (now deceased) all had Alzheimer’s disease. I am currently seeing early Alzheimer’s and short-term memory loss in my 80 year old aunt and her 75 year old youngest brother.

I have been monitoring my aunt who could not tolerate the Alzheimer’s medications that she was given. I began using thiamine with her in March 2020. We began with a good B-Complex having 100mg thiamine mononitrate and then added 50 mg Allithiamine in mi- July when she got very sick with what I believe was Covid-19. I kept her on this dose through August and then upped it to 100mg in September. I am now seeing improvements. Her energy has improved greatly. Although still forgetful, her memory is improving. She recovered after three weeks with the virus, yet suffered with extreme fatigue many weeks to follow. I will write about her story in a subsequent post.

The Path to Recovery

As a nurse, journaling my symptoms, diet, supplements, and vital signs, etc., I have watched my symptoms, rated on a scale of 1-10 with 10 being worse, go from 7-8s down to 3-4s over the last 6 months, after beginning thiamine replacement. I have been thoughtfully self-experimenting, slowly increasing my TTFD, using the brands called Allithiamine and Thiamax along with magnesium and potassium for proper absorption. Since rebalancing thiamine often brings out other deficiencies, I alternate a good multivitamin/mineral supplement and B-Complex and take probiotics for good gut health and better absorption. Over the last 6 months:

My neuropathies, which were tested pre-thiamine in February 2020 and again in June 2020 after a little over 5 months into thiamine treatment, are reversing.
I am off all pain meds, antidepressants, and other scripts (weaned under supervision SLOWLY).
I am happier, calmer, healthier overall.
I am most impressed with my renewed desire and ability to read, write, and research and retain information learned!

I’m now so hopeful for a good recovery by next spring. I understand I will need thiamine supplementation for life now, hopefully in lower doses eventually. Time will tell.

Drugs Don’t Solve Vitamin Deficiencies

With this experience, I have learned that there is no one easy answer for all as far as dosing goes. Replenishing thiamine requires careful rebalancing of other vitamins and minerals, as most people have multiple nutritional deficiencies. Prior to supplementing with TTFD, my labs showed Vitamin D deficiency for over ten years and low thiamine since 2015. If not for the COVID environment, I would have been hospitalized for IV thiamine treatment and looking back now, probably should have been.

I hope my story here can in turn help others find answers which sadly so many Western doctors seem to miss. Nutritional knowledge is barely taught in medical school. I hope that changes, as malnutrition is often the root cause of many diseases. I know all too well how frustrating it can be to go from doctor after good doctor who only know what they are taught: “treat symptoms with drugs.” Sometimes, it takes one’s own persistence, research, and being proactive to regain wellness. Of course, wellness means cleaning up the diet by avoiding processed foods, carbs, and sugar. Recovery takes eating clean, whole organic foods mainly. It means balancing exercise, sunshine and good mental health. It takes looking at your environmental toxin exposures. It means DE-stressing and cutting back on EMF’s. It takes changing your lifestyle but most importantly, listening to your body and allowing rest and recovery and above all, a well-balanced life.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter.

Photo by Marija Zaric on Unsplash.

This story was published originally on October 12, 2020.

Childhood Seizures Precipitated by Thiamine Deficiency

by Sonja

Published on January 16, 2025

4644 views

The seizures started for the first time with a frightened expression in my then 4 year old precious daughter’s eyes, and I thought she had seen a ghost. She held her chest, looked wide eyed, ran over to me and buried her head into my stomach where I felt her heart beating hard and fast. It lasted a few seconds and then I reassured her and on went on. She said it was like strong butterflies in her belly. It also was the morning after her lovely grandparents left after a 3-month visit back to Ireland and we were all very sad.

For approximately one year prior to this, she had been complaining of stomach aches, top and bottom, occasionally under her ribs. She had reduced appetite and a very worrying paleness. She also was very car-sick so we had to prepare for longer journeys. I had been to the ER after Christmas lunch when she had terrible stomach pain. She was checked to be ‘fine’ but I was advised to see a pediatrician to follow up.

Panic Attacks or Seizures?

Basic blood tests confirmed she was in ‘great health’, with the only thing they found in a stool test being h-pylori. So it was their opinion that she wasn’t having seizures but instead must be anxiety/panic attacks as she is a sensitive child. I was always skeptical, but in absence of any other data, we waited a long time for the referred psychologist. After 3 sessions, I realized they had no intel and were chasing the wrong dragon. I kept saying she looked somewhat unwell. The seizures were happening quite infrequently then, perhaps one episode a month, or every 2-3 weeks, but then when she started kindergarten they ramped up a little more frequently. She would stop, look to be catching her breath, hand twisting for a few seconds and then it was over. I thought it was a reaction to the food they fed her there that we didn’t have at home, or a recent childhood vaccination or that she hated being away from me there. I also noticed she reacted with bad behavior and potential episodes after certain foods- e.g. ice cream especially and any food dyes/flavors. So our already healthy diet went up a notch to exclude these. I also did gluten and dairy free on advice from naturopaths. It was strict and sad.

Then these episodes changed to resemble a seizure more directly, not a panic attack. I got rid of the useless pediatrician who was actively gaslighting me to try to minimize the symptoms or their own incompetence and I demanded to see a neurologist. It was again a very long waiting game. When the day came, we were very nervous but were looking forward to some potential answers. He was a neurologist at a prominent Children’s Hospital, so I had high expectations. I still had many questions and areas to workshop but after he ran through my extensive notes and a video I took, he said ”let me stop you, She has epilepsy and ‘NOTHING YOU DO WILL EVER MAKE A DIFFERENCE. She will need medication for life and if that fails an operation”. This was also via video link, as it was during a Covid lockdown. No physical examination and a script sent in the mail. I accepted these, as I know you don’t refuse unless you want trouble, but my intention was to never band-aid or experiment, especially not with a young child and my family’s history of sensitivity to medication. Thank god he lied so blatantly when he said ”there’s no side effects from the anti-seizure meds” to know we weren’t dealing with the truth or someone who could be trusted.

We did another two MRIs, but they were clear. They wanted a third with dye contrast but I refused that and as I learned more about her case, know why I felt so strongly about that.

A Parade of Doctors

We embarked on the alternative/functional medicine pathway, as that is something I am familiar with. I didn’t realize how challenging it was going to be. We went from one to the other. I was constantly seeking experts who possibly knew more than the last. I needed help to decode this horror. I know a healthy child doesn’t get a whisper of issues that then progress to a scream over years for no reason.

With each new practitioner, we did another test. This included blood tests, stool test, hair tests, OAT test, Pyrrole and extensive Genetic testing. She was found to have higher copper ceruloplasmin to be treated simply with zinc, which was always met with a seizure so we stopped that. She had high vitamin D and B12, but another test found that potentially wasn’t a true representation. It can be in the blood reading but not necessarily in her cell. This is where you really throw your hands-up and say what chance do we have if some test results can also be falsely represented!!!!!

The genetic testing provided the best clue that we weren’t dealing with an easy case- she had heterozygous compound MTHFR, and many other compromising genes that are not ideal on many pathways, especially detox. This also got me remembering how I haven’t felt optimal for years. I put it down to extreme stress with my daughter. A huge thing I always wanted to understand was why I was so incredibly sick with Hyperemesis Gravidarum the entire pregnancy with her. I have always believed this had to have impacted her somewhere but could never nail down a connection.

After 5 naturopaths and numerous consults from other medical professionals, listening to one bogus diet restriction after the next, many different versions of expensive supplements that basically all triggered her. Nothing was working. She was having seizures weekly or more particularly is she was sick or overly stressed. The closest theory I could deduce of was a type of MCAS or histamine intolerance and the symptoms were:

Crying out prior
Frequently occurring in sleep waking her bolt upright
Hyperventilation/can’t get air
Big scared eyes
Drooling, disorientated
Body shaking, head was twisting hard to the side like dystonia, arms curled, torso completely contorted.

This would last for about 30 sec-1 min. The horror of witnessing this is imprinted on my soul forever. She began to lose balance so we would have to grab and hold her and I would blow hard in her face to try to get it to finish. It started to become dangerous if we weren’t around to catch her.

I also simultaneously worked back one item at a time to try to fix every variable I could, including environmental. There was a mold spot in our house in the room she slept in the bathroom. It took a long time to get repaired, I pondered about that exposure and if the builder actually fixed the leak properly. Our awful neighbor had smoky barbeques numerous times a week on the fence-line using building offcut wood. The smoke permeated our house. We sold our house to see if that made a difference and moved to the country with my parents’ house in the green clean air.

Thiamine and Riboflavin Deficiencies With Genetic Underpinnings

I finally found a practitioner trained in epigenetics with a naturopath background as I wanted someone like Ben Lynch. His YouTube videos were the only things that made sense to break down a complex health issue. She was a blessing and truly eclipsed the level of detail of knowledge (and empathy) by all others. She looked at the OAT test (shown to 5 people previously) and saw immediately she had very high lactic acid and some other markers indicating thiamine deficiency, critically followed by a riboflavin (B2) deficiency. She advised to not give a B complex and work through one at a time.

When we tried to treat this with thiamine and a B2 capsule. I am sure she had a paradoxical reaction as she had 8 seizures in the night. It was horrifying. I wanted to abort this plan like so many other failed attempts, as I never prolong anything that’s not showing positive traction, but something told me to break it down and do one step at a time. I went back into her genetics myself and looked at the thiamine related genes. She had homozygous defects in a key thiamine transporter (SLC19A2) and an enzyme (thiamine pyrophosphokinase – TPK1) that turns free thiamine into its bioactive form thiamine pyrophosphate. She also had SNPs in several other key thiamine genes, in addition to SNPs in several other mitochondrial genes.

I also came across and watched Elliot Overton’s Thiamine videos on YouTube and how to correctly dose-up. I also read many insightful articles on the Hormones Matter website. I tried again with low dose of b1 (about 5mg), some magnesium and potassium-coconut water. The seizures, in the midst of a horrible flare, stopped immediately and didn’t return for over 2 months. I dosed twice a day and worked up to 50mg of thiamine in total, which is where she is currently. She also got much better color in her face. It truly felt like a miracle!

What Else Are We Missing?

The miracle, however, ended and the seizures have been creeping back in and I’m not sure why. They seem not quite as severe in presentation, however they still occur about once a week to every 2 weeks. I need to understand why and how to help her as my intuition screams at me to find the answer, and quick! She is now 8 years old and I am struggling to comprehend any more of her childhood being stolen.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, and like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter.

Photo by Noah Silliman on Unsplash

This article was published originally on September 11, 2023.

thiamine deficiency

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The Rise in Food Sensitivities

Oxalate Problems

Figure 1. High Oxalate Foods

Other Dietary Contributors to Oxalate Buildup: Processed Foods

Figure 2. Oxalate Content in Common Foods

Is Thiamine Really the Problem?

Figure 3. How Low Thiamine Leads to Elevated Glyoxal and Cancer

With Marginal Thiamine

With Sufficient Thiamine

Take Home

Is Your Body Producing too much Oxalate?

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Introduction

What Is Thiamine Deficiency and Why We Need Better Testing

Measuring Enzyme Activity to Assess Nutrient Status

Evaluation of Thiamine via Erythrocyte Transketolase Activity

When a Normal Transketolase Test May Not Be Normal

How to Interpret Basal Activity Results

Conclusion

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Raw Veganism and My Slide Into Poor Health

The Progression of Thiamine Deficiency Symptoms

Discovering Thiamine Deficiency

Successes, Failures, and Odd Results

Antifungals and Herbs

Probiotics

Digestive Enzymes

Navigating Nutrient Repletion

Adding Acetyl-Coenzyme A, Thiamine, and Other B Vitamins

Theories

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Recognizing Thiamine Deficiency Syndromes

Symptom Exacerbation: Refeeding Syndrome

Refeeding Syndrome in Children

From Catabolic to Anabolic Metabolism

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My Silent Demise: Unrecognized Thiamine Deficiency

The Laundry List of Tests and Doctors Conclude: It’s All in My Head

Discovering My Thiamine Deficiency: A Bit of Research and a Bit of Serendipity

A Possible Family History of Latent Thiamine Issues

The Path to Recovery

Drugs Don’t Solve Vitamin Deficiencies

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Panic Attacks or Seizures?

A Parade of Doctors

Thiamine and Riboflavin Deficiencies With Genetic Underpinnings

What Else Are We Missing?

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