Autistic Spectrum Disorder, Mitochondria, and Nutrient Deficiencies

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ASD nutrition
Much has been written in the medical literature concerning the biochemical and potentially treatable nature of a group of conditions known as Autistic Spectrum Disorders (ASD). Then why are practicing physicians treating these children with medications rather than nutrients? The answer, of course, is that the disease model is being rapidly antiquated by a better knowledge of Mother Nature. This post discusses some of the important published information that indicates very strongly where the research should be.

Mitochondria

Hopefully, the reader of this post will be aware that mitochondria are the organelles that produce cellular energy. It has become clear that what the authors describe as a large subgroup of individuals with ASD demonstrate abnormalities in mitochondrial function and suffer gastrointestinal symptoms. These authors state that the majority of children with ASD do not have a primary genetic mutation. This raises the possibility that their mitochondrial disorder is acquired, or results from a combination of genetic risk interacting with a wide range of environmental triggers. “Spotty”energy deficiency in the brain may be the bottom line. Cellular distribution of the deficiency might vary from individual to individual, thus explaining the variety of symptoms. These researchers also reviewed the evidence that enteric bacteria play a part in this disease. The microbiome is the term used to describe the full complement of bacteria that live in the human intestine and play a huge part in maintaining health. The microbiome and its connection with disease was recently reviewed on Hormones Matter.

ASD and Malnutrition

One hundred and five children with ASD and 495 typically developing children of 6 to 9 years were compared in Valencia, Spain. The affected children failed to meet dietary recommendations for thiamine, riboflavin, vitamin C, and calcium. It was recognized that cultural patterns and environment may influence food intake. The majority of parents reported some concern regarding the feeding behavior of their ASD children in India. Relative to controls, the affected children had significantly lower daily intake of potassium, copper and folate although they did not differ in their calorie intake. We have pointed out in these posts that a high intake of empty calories with a normal blood concentration of thiamine is the equivalent of a normal calorie intake with dietary thiamine deficiency.

Autism rates in the United States are increasing at a rate of 15% a year. A recent study established the autism rates for each of the 50 states and calculated the percentage of infants who participate in the Women, Infants and Children program (WIC). The states with the highest WIC participation had significantly lower autism rates. Infants who were solely breast-fed, however, had diets that contained less thiamine, riboflavin, and vitamin D than the minimal daily requirements. The results suggest that autism may be nutritionally related to vitamin deficiency. However, the question remains as to whether the malnutrition was the effect of poor eating behavior resulting from brain changes due to autism, a typical “chicken and egg argument”. Which is cause and which is result?

An 11-year-old boy with autism developed liver dysfunction and became less responsive. His diet for several years was self-limited exclusively to a single “fast food”. He improved rapidly with the administration of thiamine but developed epileptic fits two weeks later that required the administration of vitamin B6. It has long been recognized that pharmacological doses of vitamin B6 can be used in some cases of seizure disorder, requiring the physician to be alert to the possibility.

Genetic Factors, Nutrition, and Autism

To illustrate that nutritional effects can be linked with genetic risk, we reported a recovered alcoholic mother who had two children with ASD. All three subjects had evidence of autonomic dysfunction that improved with dietary restriction but quickly relapsed after ingestion of sugar to which they were clearly addicted. Improvements and relapses were marked by an intermittently normal and abnormal laboratory test for thiamine deficiency. A genetic relationship between sugar consumption and substance abuse, including alcohol, has been demonstrated. I came across several cases where an individual with sugar addiction had a family history of alcoholism. In one instance a boy had developed autonomic dysfunction (Postural orthostatic tachycardia syndrome, POTS) following a vaccination with Gardasil. His test for thiamine deficiency was strongly positive. His father was known to have a classic case of brain thiamine deficiency (Wernicke encephalopathy) and a family history of alcoholism on his side of the family. This case suggests that the boy had a genetic risk for alcoholism from his father and that sugar ingestion might have increased that risk, creating a marginal, possibly mildly symptomatic or asymptomatic, state of thiamine deficiency before he received the vaccination. The question remains therefore whether his succumbing to POTS demanded a combination of all three factors, genetic risk, asymptomatic marginal thiamine deficiency with symptomatic precipitation by the “stress” imposed by the vaccination.

Oxidative Metabolism

The published research suggests that the primary cause of autism (and many other brain diseases) is an underlying defect in the energy requirement for the brain. Although we do not claim that thiamine deficiency is the only cause of this disease, it is strongly suspected that the cause in common is anything that interferes with energy metabolism, an idea that has already been published. Since thiamine deficiency appeared to be a common cause of mitochondrial dysfunction, we reviewed our medical records from ASD children that we had treated. Besides blood tests revealing thiamine deficiency, there was evidence of traces of heavy metal accumulation from hair analysis, suggesting that some children with ASD may have particular trouble excreting these heavy metals.

Genetic studies have not revealed dominant genetic errors common to all cases of ASD, although it is assumed to be a complex disorder due to mutations in hundreds of common variants. Insight has been published, offering evidence that perhaps many of these neurologically afflicted children could be successfully treated with micronutrients. Evidence has been published that, in infantile autism, the areas of brain damage that occur are the same as those resulting from alcohol abuse, well known to be associated with thiamine deficiency. It is of particular interest that concentrations in blood testing of inactive thiamine (thiamine and its monophosphate) were normal whereas the concentrations of active thiamine (thiamine pyrophosphate) in autistic children were significantly decreased.

Many people (including physicians) are not aware that thiamine ingested from the diet does not have any action in the body until it is “activated” (converted to its phosphate form). Failure in the body to activate it is of course equivalent to being diet deficient in the original vitamin. In 2002, I published a paper reporting that I had treated 10 children with ASD using a derivative of thiamine, now available as Lipothiamine. Although eight of 10 children had marked clinical improvement, it was only a pilot study to assess whether this substance had any value in treating this disease. I had intended to set up a major study in collusion with a number of university scientists but the particular circumstances we required were not permitted by the FDA and we were unable to go ahead. Two recent publications have provided further details concerning the role of thiamine in health and disease (Lonsdale, Marrs 2017. Lonsdale, 2018)

Conclusions

It seems to be clear that ASD is a group of disorders with overlapping symptoms represented by a mixture of genetic risk, response to the stresses of life, and poor nutrition. The symptomology may come from genetic risk alone, but it is argued that in most cases it is a variable mixture of all three factors.

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14 Comments

  1. This is a reply to Betsy concerning her posts, April 29, 10:50 PM, April 29, 10:35 PM, April 30, 6:02 PM, April 30, 1:26 PM, May 1, 9.11PM, May 1, 7:39 AM, May 5, 6:29 AM
    Commercial honey is virtually 100% sucrose and is quite unlike the honey in the hive. It is really just another source of sugar There are many different salts of magnesium. My favorite is magnesium potassium aspartate.. You will find case studies in the book that give you an idea of doses of thiamine. Allithiamine (A) and Lipothiamine (L) are the same. A is in powder form and L is enteric-coated to assist its passage through the acid content of the stomach because thiamine is absorbed in the jejunum.Because both are disulfides, stomach acid will cause partial hydrolysis, thus losing some of its absorption potential. It is interesting that the peripheral neuropathy caused in beriberi preferentially attacks the thumb, index and middle fingers as the first sign of neuropathy.Curiously, it is the same neuropathy as one gets with carpal tunnel syndrome and I would certainly advise Lipothiamine. Benfotiamine helps peripheral neuropathy but studies have shown that it does not get into the brain. Both L and A are disulfide derivatives of thiamine and do not require the transporter proteins necessary for the absorption of dietary thiamine. I prefer L because of the enteric coating but A is an excellent preparation and might be easier to take if pills are difficult. There is at least one publication that vitamin D deficiency is responsible for some cases of Autism.

    1. That was extremely helpful Dr. Lonsdale.

      We are all so very very grateful. Yes the book is rich with case studies, citations and dosing examples. It is a wonderful book.

      Your research is going to be a game changer, regarding health concerns, for all 46 of us and our family members. Talk about a domino effect.

      Does raw local honey bottled direct from bee hives, eaten occasionally without cooking it, have the same deleterious effects as processed sugar and commercial honey? For instance if raw honey was added to a bowl of oatmeal after the oatmeal has been cooked.

      With the utmost gratitude.

      Betsy

      1. I have always assumed that beehive honey, untouched by industry is OK. However, some brains react to the sweet taste signal from the tongue and this may be more insulting than the chemistry. If a person craves the sweet taste, he/she is addicted and sweet taste in ANY form will continue to produce symptoms.

        1. That makes perfect sense about the sugar addiction! I think we are all good now and ready to get on with the protocols. We are waiting for our Allithiamine or Lipothiamine orders to arrive to get started! In the meantime we are cleaning up our diets. 🙂 Thank you!

  2. Dr. Lonsdale I am a member of a private online woman’s health mastermind group, there are 46 of us, and we are all in deep discussions about your research and how depleted thiamin really seems to fit the bill regarding our own and our families health concerns. Many of these women have autistic children and/or children somewhere on the spectrum so all of us are very pleased to have learned about your research as it is the first time we have heard of Beriberi being so prevalent here in the US. Two questions keep coming up that none of us are clear on and I was hoping you might clarify for us so I can give them an update.

    We see that Cardiovascular Research Ltd sells the synthetic TTFD form of thiamin you discuss in your articles and that they sell two TTFD thiamin products. The Lipothiamine is an enteric coated tablet and the Allithiamine is a capsule filled with powder. It seems like you prefer the Lipothiamine over the Allithiamine version, I think, so our questions are as follows:

    Is there a difference in efficiency between Cardiovascular Research Ltd’s Lipothiamine and Allithiamine version?

    If in fact you do prefer the Lipothiamine over Allithiamine version what is the reason(s)?

    Thank you for helping us to understand the difference,
    Betsy

  3. I purchased the new book and just started reading but only on page 31 of the kindle book… my dear husband wanted me to ask you.. he has Left arm pain and chronic paresthesias as the the TIPS of the left thumb, index and the middle finger are numb 24/7 (about 3 years) along with pain in the left elbow. Doctors attribute this issue to his neck specifically:

    “Multilevel degenerative spondylosis which in conjunction with a diffuse congenitally somewhat small spinal canal results in mild diffuse spinal stenosis spanning from the C3-4 to the C6-7 levels. There is degenerative spondylosis with degenerative disc disease with disc bulges.”

    Would one consider either Allithiamine or Lipothiamine along with additional Benfotiamine since it is most likely really a type of periphreal neuropathy? Or is it best to solely focus on Allithiamine or Lipothiamine without the Benfotiamine… he would have no problems taking the Lipothiamine if that is the best one to start with.

    Thank you again for any suggestions we should consider,
    Betsy

      1. Well worth a shot… I am sure he will derive some kind of benefits with his energy levels, even if it doesn’t help the condition I listed above. Thank you very much for the input :)))

  4. In my experience the symptoms described by Betsy are unbelievably common in America. It is also almost a given that this bunch of symptoms will be treated as psychosomatic. I have long suspected that Hashimoto is related to energy metabolism. Lyme disease is caused by an opportunistic organism (takes advantage of the patient’s weakness). Hypoglycemia, unstable blood sugar, fatigue, brain fog, anxiety, air hunger and stress sensitivity are all symptoms of deficient oxidation (oxygen consumption) in brain cells. Thiamine requires one or more genetically determined proteins that act as transporters, meaning that they transport the vitamin into the cell and it may be true that one of these transporters is missing. Get rid of sugar in all its forms but you can obviously take fresh fruit and vegetables. I would recommend Allithiamine because you can open the capsules. Start on 50 mg twice a day and wait until you see whether your symptoms are made worse. If so, don’t discontinue the vitamin. This paradoxical increase of symptoms lasts an unpredictable time, but forecasts eventual improvement. Allithiamine has no toxicity and you can increase the dose with a theoretical maximum of six capsules a day.Please remember that this does not work if you continue to take sugar, alcohol, fruit juice (lack of fiber) or sweeteners of any sort.

    1. Thank you again so much looking forward to reading the new book… I will do. I don’t drink alcohol or fruit juice so glad those things are not staples in my diet… will need to cut out the fake sugars.

    2. Benfotiamine vs Lipid-soluble Thiamine Disulfide Derivatives
      https://www.medscape.com/viewarticle/583556

      Dr Lonsdale thanks for all your work.

      I have POTS and the last 16 months I have had night time adrenaline, heart palpitations and air hunger. This started after I used a potent transdermal B vitamin supplement from b12oils.com. It is 80% absorbed into the bloodstream, developed by a biochemist. 4 days of this and I crashed. I was shaky and flooded with adrenaline.

      Can high dose of other B vits deplete B1?

      Prior to this I managed my POTS for years with mito supplements. Now they make me more fatigued.

      Thanks
      Paul

      1. In 2013 I received an email from a woman whose daughter had received Gardasil vaccine 4 years previously and had been crippled with POTS. She had come to the conclusion that her daughter had beriberi after doing her own research. She was then able to get the transketolase test which was positive for thiamine deficiency and the POTS did respond to Lipothiamine. Since then a neurologist in the state of New York has reported a number of patients with POTS related to thiamine deficiency. Heart palpitations and air hunger are typical manifestations of brainstem disease and are likely to be thiamine deficient symptoms. A group of researchers in Belgium have shown in animal studies that Benfotiamine does not cross the blood brain barrier, whereas the disulfides do. That is the major difference in action. Thiamine does not deplete the other B vitamins. They all work together but thiamine seems to be the dominant one in therapy.

  5. Hi Dr. Lonsdale wow your work is a real gift to us and thank you for being persistent you didn’t have to but you did. These children with Autistic Spectrum Disorder are proving to really be our teachers with how to heal adult bodies too and they have become the canaries letting society and the medical system know we have to change… very sad that they are taking the brunt of it all instead of enjoying life being a kid.

    I am interested in purchasing your new book. Is it possible to utilize the book help one figure out what doses are best? I have 5 questions below and perhaps they will all be answered in the book if not I am hoping you would be amicable to giving me a little direction… I am a layman wellness coach who knows just enough to be dangerous 😉

    I have had a lot of symptoms that rotate and constantly change and that don’t fit into a neat little box. Reading your material makes so much sense to me and my experience… but to all my doctors of course it’s all psychosomatic. Symptoms include but are not limited to: air hunger, upper gut pain and tightness with 2 endoscopies showing no pathology and other tests coming up negative, swallowing troubles, feeling like something is stuck in my throat, can’t swallow capsules or pills, hashimotos, tested positive for lyme, dizziness, blood sugar swings/hypoglycemia, extreme fatigue, brain fog (hard to communicate, read, focus, concentrate), anxiety, anxiety, anxiety that triggers the flight or flight response that lands me on the toilet, shaking and with air hunger, muscle weakness and joint pain. I am very sensitive to stress whether it’s external (driving home in rush hour) or internal (infections) too much stress can send me 3 steps back quick. There are other symptoms but that is the jist of it.

    A lot of this has improved as I have broadened my diet to get more nutrients and significantly reduced my stress by not working which really isn’t ideal at all… for a while my diet was limited. I don’t eat gluten, I eat organic, I eat meat, vegetables, I cook all my food… but I now realize after reading some of your work that I have too many un-natural sugars in my diet so I am going to rely more on fruits and readjust my meal plans.

    —-} QUESTION #1: Is honey also something to be avoided?

    I am going to add thiamine, along with a good multi (based on my SNP mutations as I have a few of the methelations) and magnesium 250-300mg twice a day.

    —-} QUESTION #2: Is there a preferred magnesium or is this info in the book?

    —-} QUESTION #3: Will the book help me figure out how much thiamin to take or what the therapeutic range is that I can play around with for my own N=1?

    I will try alithiamine first since I can’t swallow capsules or tablets no matter how small they are, I have to chew it up or pour contents of capsule in my mouth.

    —-} QUESTION #4: If the alithiamine doesn’t work for me, as some people do better on lipothiamine, is it ok to chew up the lipothiamine or will it be ineffective since the enteric coating will have been broken?

    I do have a small amount of peripheral neuropoathy (but I am not diabetic) after a tooth was extracted near the extraction site.. I understand 300 mg of benfotiamine 2x per day has been shown by other researchers to help some with neuropathy…

    —-} QUESTION #5: have you found that alithiamine or lipothiamine can help with neuropathy if I just focus on that so that I don’t have to try adding benfotiamine.

    Thank you in advance for taking time out of your busy schedule to read this and reply. Sincerely, Betsy

    1. Either way I am purchasing your new book either today or in the next few days as soon as I can budget it in.. I want to support hormones matter 🙂

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