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Elimination Dieting and Progressive Thiamine Deficiency

Published on March 7, 2023

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My issues began after the birth of my second child 21 years ago. I would get extreme indigestion for a couple days each month and my skin broke out. This continued for years until I ended up having several rounds of antibiotics. Months later, I developed severe and never ending acid reflux. After struggling for a year, my local health food store owner mentioned the blood type diet and recommended I avoid dairy. The result was magic. Unfortunately, this started a cascade of elimination diets that would set the tone for the next fifteen years.

After eliminating dairy and seeing a resolution of symptoms, at least temporarily, I decided to eliminate gluten too. As with the dairy, the indigestion disappeared temporarily when I eliminated gluten, but other symptoms eventually crept in, including hypothyroidism and bile reflux. I read about a vegetarian diet and decided to give it a try. Again amazing results from removing meat. The bile reflux disappeared. I thought things were going pretty well, but in these years I started to have other issues: ataxia, fatigue, heat intolerance, numbness and tingling, gait and bladder issues. In addition, I was always starving. I ate a tremendous amount of food each day, but at the same time I was losing weight.

My naturopath had mentioned possible problems with my gallbladder, but I didn’t think too much about it until I had constant pain. It was eventually discovered that I had a non-functioning gallbladder and I reluctantly had it removed, hoping it would solve my problems. I had tried changing my diet to the autoimmune paleo several times, but would always crash after a couple weeks. After surgery, I could eat meat without major issues, but nothing seemed to digest well. I felt like I never really recovered and other issues started to creep in.

My calf muscles would spasm upon standing and I was so weak I was having difficulty walking a block. A year after surgery, I was diagnosed with primary progressive multiple sclerosis, as it matched my symptoms and lesions were seen on my cerebellum and down my spine. The hallmark of PPMS is neurodegeneration without inflammation. The next three and a half years were a quick decline. I quickly became unable to walk unaided, mainly because I was too fatigued and my muscles too weak. PPMS used to be called creeping paralysis and that is exactly what was happening; I was unable to move my arms or legs, my equilibrium was so off that I couldn’t stand without tipping over and I couldn’t look down to even zip up my jacket.

I had really bad edema in my lower legs and feet and they were a nice shade of purple. My brain was easily overwhelmed and not committing things to memory, which left me going in circles. I lost my appetite, but blamed it on my ever changing diet and my fear of eating the wrong food. I would alternate between diets, cutting various food groups with very limited success.

I visited multiple naturopaths, a functional medical doctor, a NUCCA chiropractor and a MS specialist. I have researched endlessly and have a cupboard full of supplements. I had tried B vitamins before but had not noticed a difference. I joined a Facebook group called Understanding Mitochondrial Nutrients and did not think much about the vitamin I needed most, thiamine, until a post by a desperate husband came up in my feed. I began to research thiamine and found I was able to piece together a timeline of my life based on a progressing thiamine deficiency. I am only three weeks into dosing with thiamine (I take 200mg thiamine HCL and 240mg benfotiamine) and a B complex, but it has made such a difference in my balance, fatigue, edema and mental energy. My appetite is back and I can zip up my coat! I am cautiously optimistic, only because I have suffered so much disappointment in the past. I am hopeful that I can make a recovery.

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Recovering From Suspected Thiamine Deficiency

by B K

Published on June 10, 2020

20860 views

On and off over the last several years, I have had peripheral neuropathy along with a number of other strange symptoms like air hunger, light and sound sensitivity, and balance and gait issues that I believe are related to an undiagnosed thiamine deficiency.

Peripheral Neuropathy, Air Hunger, Dizziness, Altered Vision and Other Symptoms

I have always taken pretty good care of myself as well as taking supplements. I should note, that for the year prior to my health decline, I was drinking a lot of coffee, approximately 40-60 ounces per day. I have since learned that coffee diminishes thiamine. When I began to develop the neuropathy, I didn’t really know what it was. The strange sensations would come and go, but it became more and more intense in my legs and feet. Last summer, I also started to feel similar vibrations in my rib cage. It was extremely uncomfortable.

In addition to the neuropathy, I would wake up sometimes during the night gasping for air. Toward the end of last summer, I could really feel my energy slowly waning and in November of 2019, I had the flu. After I recovered from the flu, I still felt exhausted and weak. I went back to the doctor in December, 2019 and was found hypothyroid and put on Levothyroxine. I have been diagnosed with Hashimoto’s Thyroiditis. Anyway, I did not feel much better and I went back in January, 2020. I had a chest x-ray which showed lung inflammation and was told it could be COPD or asthma. I was asked if I had been smoking and I said it had been 35 years since I’ve smoked. (I am now 61.) At this point, I had some serious nervous system disorder signs, which I now think were the signs of both dry and wet Beriberi.

My symptoms had progressed to the point that I was extremely sensitive to light and sound and had extreme lightheadedness/dizziness. My vision plane was tilted to maybe like a 30 degree angle. My gait was weird at times and my balance was terrible. I received a general blood test and was also tested for Lyme disease, Lupus, RA and other autoimmune diseases, with normal results. They also tested my adrenal and parathyroid hormones and that came back normal. My body overall had this continuous buzzing type of sensation. I am normally social but felt so bad that I wanted to withdraw from people.

Was It Thiamine?

I found Drs. Lonsdale and Marrs information about thiamine and started on Allithiamine in mid-March 2020 and continued to see the chiropractor. I started with one, 50mg capsule per day and now am up to three 50 mg capsules a day. I plan on increasing to four capsules per day soon. The dizziness, balance problems, visual disturbances, light and sound sensitivity issues, and gait issues are pretty much gone.

What has worsened is that I have a hiatal hernia that never really bothered me that has begun to bother me a lot over the last 4-6 weeks. When I am having a flare-up, I am short of breath and my abdomen feels extremely tight between my ribs. This happens every few days. I feel that I have been healing but the abdominal discomfort and the effect it is having on my breathing is extremely uncomfortable at times. I am wondering if it is normal for one set of symptoms to resolve and a new set to arise. It is clear that the thiamine is helping with a number of my symptoms, the dizziness, balance and gait and the light and sound sensitivity have all improved, but the hernia and the pressure it causes on my breathing, has worsened. Will Allithiamine possibly help heal my lungs of the damage caused by smoking all those years ago? Will it help with the breathing and hiatal hernia or am I missing something?

I would love to hear your comments about all of this. I am deeply grateful for all of the work and research your site has done shedding light on the importance of thiamine.

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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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Neuropathy and Multiple Sclerosis Treated with Biotin, Thiamine, and Magnesium

by Terry F.

Published on December 18, 2019

19203 views

Neuropathy From Unknown Causes

I was diagnosed with “Neuropathy from unknown causes” back in 2005. It started in my feet (coldness, loss of feeling, cramps, stiffness). Then, over the years the numbness worked its way up to my calves, with severe cramps, then thighs and even my biceps got involved (squeeze the bicep, get a cramp). Sometimes I would have numbness in the hands and face. I started having a gait issue occasionally with a foot drop. Overall my legs got extremely stiff. Muscles felt like piano wires and no amount of stretching helped. I also had acid reflux issues on and off and a pain in the low left abdomen which often expressed out the back at the lower left hip. I used to love lifting weights but stopped as instead of soreness then recovery with more strength, lifting seemed to cause soreness that just increased no matter how long I spaced recovery between sessions. Doctors said they eliminated serious possibilities and whatever it was wouldn’t kill me. They noticed some brain lesions, but joked – well who doesn’t have those :-). Still around 14 years later so they were right.

Over the last couple of years, I started to have frequent stumbles which progressed to several serious falls last year. Luckily, I avoided serious injury. My diagnosis hasn’t been changed nor looked at since 2005, but to be fair, when rushing through the last appointment with my doctor I forget to mention the stumbling and falling as a new symptom. There seems to be a genetic factor at play as my father suffered from stiff legs and a walking issue and neuropathy. Both brothers are having similar issues and an Aunt had Parkinson’s Disease.

Enter Thiamine

I ran across your work with thiamine and have started high dose of the TTFD form of thiamine (allithiamine and lipothiamine) about 100 mg 3x a day. I saw a quick resolution of the stumbling and falling issue, my balance has been fantastic, a reduction in muscle pain throughout my body, acid reflux vanished, and a big improvement in cramping in thighs and calves. I also have tinnitus and haven’t seen much change there, it comes and goes.

My brother has also started. He had water on the heart after having chemotherapy, low energy, constant diarrhea, bloating, weight gain, and the neuropathy in the legs. He is doing very well with only 50 mg a day.

We both noticed after 3-4 days, a relaxation of chronic muscle spasms and increased flexibility, especially in the shoulders. My brother says he could raise either arm and touch the middle of his back for the first time in over 40 years. My brother is also losing body fat around the belly quickly, he is overweight, while my weight has been steady instead of the usual battle to stop gaining weight. I also feel far stronger.

Recently, I got busy and missed some doses and the muscle cramping returned quickly and getting back to 100 mg 3X a day (along with a B-complex) cleared things up quickly. I felt things were still very good but not quite as effective, so I recently up’ed to 100 mg, 100 mg, 150 mg, 150 mg, for a total of 500 mg as I also wanted to see if I could tackle the tinnitus. In the mornings, I was waking up with my feet feeling a bit tight and after taking my morning dose I could quickly feel the feet unwinding. I noticed that the higher dose just before bedtime seemed more effective, and waking without the tight feeling in the feet.

As for questions – I am 6’4″, 240 lbs, and 64 years old. My dosage is 2.8 mg/kg. My remaining issues are tinnitus and some eye issues (vitreous detachment, lots of floaters and flashes in both eyes). The only things I might attribute as side effects – I get hungry after my morning dose – as if I’m experiencing low blood sugar but not the other doses. I’m sometimes twitchy in the mornings (maybe a case for that higher dose before bedtime). I sometimes feel a bit spacey/hard to focus shortly after a dose which passes, and these occasional stabbing/shooting pains sometimes in nerves that haven’t bothered me before – I think this more to do with the relaxing muscles and nerves getting pinched due to my new freedom of movement and adjusting to that. That seems to only happen from sitting around and hold a posture too long then moving not when I am working on projects.

The Road to Recovery: Thiamine, Biotin, and Magnesium

The above was taken from a comment I made on the post “Beriberi is alive and well in America” in April. I had been led to the post doing searches on beriberi as I was struck how similar my symptoms were to the disease. Dr Lonsdale proposed thiamine+biotin+magnesium. I tried the thiamine first in the different forms and the lipothiamine worked by far the best. It mostly reduced the electric shocks in the feet/legs. I accidentally took 50 mg biotin thinking I was taking 5 mg and it had a near immediate and profound effect throughout my body erasing my stiffness/numbness/tingling and giving me great relief in my tightly cramped feet. It also brought back normal sensation. One effect was a powerful feeling of pulsation (blood flow) at the base of the skull after taking the biotin. I had been experiencing a lot of falls and stumbling as well and that completely stopped once I started the biotin.

During my experimentation phase, I was looking at the doses given for Biotin Dependent Basal Ganglia Disease and decided to try about 800 mg of biotin. I quickly got a severe nausea and started throwing up copious amounts of green bile, picture “The Exorcist”. In hindsight I wonder if that was a paradox reaction. So I dialed that back to about 10 mg biotin + 50 mg thiamine + occasional magnesium and was doing quite well. Not all my symptoms were gone but all in all manageable. I was also a bit bad on self – care as I would go keto/low carb, no alcohol for winter/spring and drop 30 lbs but back to an anything goes with high carbs, occasional alcohol for summer and fall with a worsening of symptoms but tolerable along with rapid weight gain.

A Switch to Conventional Medicine: Prednisone

This fall I decided that once and for all I was going to get a good health checkup and also a mainstream diagnosis and as part of that dropped the thiamine/biotin so to not affect some scheduled routine blood tests. I immediately had a big flareup in pain and stiffness which got me first sent to Rheumatology where they said they didn’t understand why I was there, then to a physiatrist who found some spinal stenosis and prescribed a course of prednisone. The prednisone worked like magic. All my symptoms vanished except for my calves and feet where the pain and tightness was gone but the spasms and electric feelings were very high. I had the opposite of expected side effects on the prednisone. I didn’t feel hunger, drank a lot of water and lost weight, no bloating, minor increase in BP. I had also been experiencing on/off chills with a low body temperature to the point I would wear a winter coat indoors at times. The prednisone vanished this, lighting up an internal furnace of heat and energy. I felt great, my motivation increased, and I got a lot of projects done, whereas before I was dragging. Even my tinnitus was greatly reduced and even vanished at times. My heart rate which was around 60 popped up to 75. Unfortunately, I broke my sleep tracker which pre-prednisone told me I was dropping into low 50’s and even high 40’s heart-rate while sleeping. The stomach pain, head pain, stiffness, numbness all gone!

Then came the taper. I started to feel the cold again as I tapered off and on and the tinnitus came roaring back. I started to feel like I had a pain sensitivity dial. My pain was extreme in the mornings and evenings, reduced during the day. My average body temp dropped from 98.4 to 96.8. Now the numbness and tingling wasn’t just in the legs, hands and feet but everywhere. Spasms everywhere. I felt I was in a real crisis. My primary referred me to an endocrinologist but it was a 2.5 month wait.

Possible Multiple Sclerosis

With the prednisone taper and return of my symptoms, I convinced my doctor to give me another MRI of the head, as the last one was 2005. That found 10 lesions that had progressed slightly but he didn’t feel that accounted for my symptoms. I now have a neurologist scheduled in a month after communicating my list of symptoms after the prednisone taper.

2005 MRI

HISTORY: Loss of feeling in feet and pain and numbness in hands, face, and feet. Occasional tremors. Polyneuropathy on EMG.

FINDINGS: There are a few small scattered foci of prolonged T2 relaxation in the central and subcortical white matter of the frontal lobes. A few similar lesions are seen in the temporal lobes. These are nonspecific as to etiology given their distribution and appearance. None of them shows abnormal Gadolinium enhancement. The rest of the brain appears normal. The arteries at the base of the brain and the dural venous sinuses are patent and the facial structures appear normal.

CONCLUSION: Nonspecific scattered white matter lesions in the frontal and temporal lobes. The differential diagnosis includes demyelination from multiple sclerosis, sequelae of vascular headaches, early small vessel ischemic disease, and vasculitis.

My latest findings showed some progress of the lesions and they went from a few in two regions (6-7 I assume) to 10.

2019 MRI

HISTORY: Neuro deficit(s), subacute. Paresthesia.

FINDINGS: Diffusion-weighted images are normal. There is no evidence for intracranial hemorrhage or acute infarct. There are some scattered signal hyperintensities in the supratentorial white matter. These number approximately 10 and are not associated with any mass effect or enhancement. These have slightly progressed since the prior exam. Brain parenchyma is otherwise normal. Ventricles and subarachnoid spaces are within normal limits. Vascular structures are patent at the skull base. Postcontrast images do not show any abnormal areas of enhancement or any focal mass lesions.

IMPRESSION

Several small scattered white matter lesions without enhancement or mass effect. These have slightly progressed since 2005. They are nonspecific and could be due to gliosis, chronic demyelination, or chronic ischemic change. They can occasionally also be seen in patients with headaches.
No evidence for intracranial hemorrhage, acute infarct, or any focal mass lesions.

My doctor still didn’t think the lesions accounted for all my symptoms and recommended waiting for the endocrinology. Both the 2005 and 2019 reports list multiple sclerosis as a possible differential diagnosis along with a couple of other things but nothing further was done. In 2005, the diagnosis was neuropathy of unknown causes.

Back to Biotin, Thiamine, and Magnesium

The brain lesions triggered some research and I discovered that high doses of biotin are being studied and in France prescribed for MS. This was enough to sink in. Being in extreme pain and figuring it is some time before any new testing, I went back to the thiamine+biotin+magnesium combination.

The results were dramatic. I immediately felt my pain sensitivity reduce to normal, so a bit of back pain was a twinge, not like something stabbing into my soul and the size of a beach ball. Stiffness, numbness, and tingling vanished in most of my body with just a bit of numbness in mouth, lips, and tongue. I could now pronounce some words again that I couldn’t just days before. I still felt the cold, especially in my feet but this is lessening every day and my average body temp is now 98.2. My heart rate is down again, but mostly low 60’s. I still cannot stand on one leg with my eyes closed but can manage with two and not sway much or start to keel over.

This time I decided that given MS patients were benefiting and tolerating 300 mg of biotin to give it a try. I increased from 50 mg to 300 over a few days. I had a touch of nausea, very minor, and no throwing up this time. Every day my symptoms are getting better. The higher dose of biotin has been more effective on the tinnitus and it sometimes is nearly gone. Currently, I am using 300 mg biotin, 250mg lipothiamine, and 350 mg magnesium and now feel back to my “normal”. My toes still curl and jump a bit, my feet get tight ranging from 25% normal to 85% normal. If I touch my thigh my toes curl. My mouth, lips, tongue are a bit numb. Prior though, I was also having pain in the left side of my head, in the jaw, “TMJ pain”, as well as pain Northeast of top of the ear, behind and below the ear going down the neck, and my left eye hurt a lot whenever I moved it. That is all gone now with the thiamine, biotin and magnesium combo, just as it was with the prednisone.

I suspect that the prednisone was shutting down all the inflammation, and allowing me to feel great and energetic but without the biotin and thiamine and not eating much I was burning the candle at both ends and paid a terrible price once I tapered.

I have done some genetic research but it all dead ended. Any research related to thiamine deficiency disorder or biotin thiamine responsive basal ganglia disease doesn’t list any of my SNP’s except for a couple that have been studied and listed in clinvar database as benign and 23andme dna data does not have many of the SNP’s for BTBGD. If I want to pursue that route I’ll have pay for special testing.

My Promethease report (which is free now everyone!) does list 29 mutations that increase multiple sclerosis risk but I suspect that is a general container for a lot of subtypes of neurological disorder. It is possible I do have MS and it is overtaxing my ability to absorb and deliver thiamine to the brain. I have a couple of homozygous mutations on SLC19a3 (Thiamine transporter gene) but there is no data on them or any of my heterozygous mutations on SLC19a2 or SLC19a3.

At this point I’m doing well and plan on continuing with the thiamine+biotin+magnesium at the current level and I am debating if it is worth pushing on with the specialists. I also plan on going on the keto/low carb/no alcohol diet permanently. I’ve learned my lesson.

I want to thank again Dr. Lonsdale, Dr. Marrs, and this site for the information they provide. I cannot imagine where I’d be at this point without the knowledge I’ve gained here.

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.

Could the Way You Walk Indicate Mitochondrial Dysfunction?

by Chandler Marrs, PhD

Published on June 4, 2018

5014 views

The answer is an unequivocal, yes. The way you walk, your gait, can be diagnostic of mitochondrial disease and dysfunction. Whether your stride is long or short, rhythmic or arrhythmic, quick or slow, symmetrical or asymmetrical, balanced or unbalanced can indicate mitochondrial dysfunction. Even better, the particular pattern of gait disturbance may distinguish between types of mitochondrial disease, at least cursorily, and indicate whether and where there might be neural involvement. This, according to a study published in the Journal of Neurology.

In a small study of 24 patients with genetically confirmed mitochondrial mutations, researchers were able to discriminate between healthy controls and patients and between the two types of mitochondrial mutations assessed (m.3243A>G and m.8344A>G) based upon gait. Both patient groups were selected because of the known associations between those mitochondrial genotypes and gait disturbances. The questions were whether the pattern of gait disturbance could distinguish between the two groups and whether the gait disturbances could be detected early in the disease process before other symptoms fully emerged. That is, could the way patients walked be diagnostic of incipient mitochondrial disease?

About the Mitochondrial Mutations and Patients Tested

The first mutation m.3243A>G (n=18) is associated a disease called MELAS, which stands for mitochondrial encephalopathy, lactic acidosis, stroke like episodes. It is believed to represent one of the more common classes of mitochondrial mutation. The MELAS mutations are associated with a constellation of additional clinical symptoms, including Chronic Progressive External Ophthalmoplegia (CPEO; weakness in the eye muscles causing eyelid drooping), Maternally Inherited Deafness and Diabetes (MIDD), migraine, bowel problems and short stature.

The second mutation, m.8344A>G is associated with a rare mitochondrial disease called MERRF or myoclonic epilepsy with ragged-red fibers. The cardinal symptoms of MERRF include: muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). However, like with MELAS and other mitochondrial diseases, the clinical presentation of symptoms is diverse with the myoclonic seizures developing in only 1 in 5 MERRF individuals. The remainder of patients present with a variety of symptoms including, generalized seizures, ataxia, cognitive decline, hearing loss, eyelid drooping, multiple lipomas (fatty growths or lumps between the skin and muscle), cardiomyopathy, neuropathy, exercise intolerance, increased creatine kinase levels. Individuals with the MERRF mutation may also have increased muscle wasting, respiratory impairment, diabetes, muscle pain, tremor and migraine.

Testing Gait: Walking, Balance, Energy and Strength Disturbances

For this study, researchers looked at five variables associated with gait disturbances:

Pace (step velocity and step length)
Rhythm (step time)
Variability (step length and step time variability)
Asymmetry (step time asymmetry)
Postural stability (step width, step width variability and step length asymmetry)

The gait testing involved walking on a sensor embedded mat which then calculated the above parameters. Additionally, the researchers assessed:

Mutation load with urinary epithelial testing
Energy expenditure (a body-worn multi-sensor)
Exercise capacity (peak oxygen consumption, heart rate response)
Muscle strength (hip flexor ad extensor strength)
MRI when available

Results

Compared to the healthy controls, individuals with mitochondrial disease demonstrated significantly reduced gait speed; they walked much more slowly. They also took smaller steps and had increase step time, width and length variability. Individuals with the MERRF mutations were noticeably worse and more globally impaired than those with the MELAS mutations and individuals bearing higher mutation loads and a longer disease trajectory performed most poorly. Universally reduced energy expenditure, exercise capacity and hip flexion and extension strength was observed across both patient groups compared to controls.

One of the more interesting and perhaps unanticipated findings was the association between aspects of gait and cerebellar atrophy. As might be expected, disturbances is balance and symmetry were correlated with cerebellar atrophy. What was interesting is that subtle changes in step width and length variability were observable in individuals with low mutation loads and who otherwise presented with fewer clinical symptoms, suggesting step variability may among the first signs of cerebellar involvement, before full blown ataxia is observed. If this bears out in additional research, walking may become an easy mechanism to test for mitochondrial dysfunction.

Connecting a Few Dots: Medication and Vaccine Induced Mitochondrial Dysfunction

Across many of the patient groups we work with at Hormones Matter, ataxia is a common symptom post medication and vaccine reaction and among individuals with thyroid disease (here and here). Often the ataxia presents with an array of other symptoms associated with mitochondrial disease, seizures, migraines, tremors, GI dysmotility, muscle weakness, neuropathy, to name a few. Since genotyping has not been conducted with these patients, it is not clear whether the medication or vaccine simply unmasked and expedited a latent mitochondrial mutation, triggered a functional mitochondrial deficit with symptoms corresponding with those manifested by more traditional genetic mutations, or some combination of both. Whatever the cause, however, it is becoming increasingly clear that many of the adverse reactions share phenotypes and follow trajectories similar to those associated with mitochondrial disease. Cerebellar involvement, being key among them. Based upon the research cited above, gait disturbances ought to be considered more closely and viewed as a marker of mitochondrial disease or dysfunction, particularly when the constellation of other mitochondrial associated symptoms presents concurrently.

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.

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This article was posted originally October 13, 2014.