Autism & MTHFR Explained

I have attempted to write this explanation – about the MTHFR gene – for more than a year now, often surrendering because it just gets so complicated (see diagram on right – and that is a simplified version)!

However, almost daily now, I need to explain the testing and interventions that revolve around the MuthrF#$Ker gene, which produces an enzyme that can assist in the brain’s ability to process (among many other important body reactions) in patients with ASD.

So, here is my simplified version, which covers the important steps for our understanding about testing and treatment for autism:

1. Folate (natural), folic acid (synthetic), Folinic acid (active) and 5-methyl folate (active) are not exactly the same a form of Vitamin B9.

2. There are several reasons why the levels of the B9 might be reduced:
Reduced intake. Picky eaters and kids don’t usually savor green leafy vegetables or lentils.
Problems with internal state of health will affect availability. Synthetic folic acid must go through the liver, natural folate is metabolized through the intestines.
Antibodies that bind to, or block the active compound. This is why doctors check the Folate Receptor Antibody Test (FRAT). The presence of such inappropriate barriers implicates reduced activity, so administration of additional vitamin should help alleviate difficulties.
Any ‘weakness’ in the body’s inability to convert the vitamin – that includes the MTHFR gene that regulates the enzyme called methylene tetrahydrofolate reductase.

3. The most studied and concerning genetic variations are often designated as C677>T, A1298>C. Hieroglyphics aside, we  inherit a ‘C‘ and an ‘A’ from each parent, and each deviation yields a less potent enzyme, so the implication is that giving the active forms of the vitamin can be beneficial. (Dr. Google, and many labs will report variations as pertains to the risk of hyperhomocysteinemia, a medical condition observed in approximately 5% of the general population, associated with an increased risk for many disorders.) For ASD, improved communication is the goal of treatment.

4. The supplements include L-methyl folate, available as a prescription under Deplin®. A web search of this product will often result in a call from parents, “My child doesn’t have schizophrenia or depression!” Marketing. Improved outlook is just one of the treatment outcomes. As noted previously, in ASD the aim is more efficient neural processing.

5. Another intervention is available as folinic acid (<1 mg dosages) and as the prescription, Leucovorin. An Internet inquiry may stimulate a call, such as, “My child doesn’t have cancer or get chemotherapy.” Different market. At a recent conference, I asked two top researchers whether they prefer one or the other active form. Each doctor replied with the opposite answer. Availability and cost help determine choice, and sometimes we try both.

The various forms of folate appear to be safe, effective interventions that can address weaknesses in the area of oral-motor functioning in individuals with ASD. In practice, agitation is the principle side effect, and too much ‘stimming’ or aggression is reason for discontinuance.

The gene controlling MTHFR production is important, but not the only one affecting multiple enzymatic pathways that lead to successful data processing. We are already discovering other critical genetic steps (SOD, COMT, etc.) and there are thousands of other genetic crossroads that will improve our understanding and lead to successful interventions.

For our more advanced readers – please feel free to submit any corrections, etc. that you feel might be necessary.

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4 Responses to “Autism & MTHFR Explained”

  1. Paulette J says:

    Dr. Udell,
    My son was pharmacogenetically tested a couple of months ago due to several medications we tried that made him more agitated and aggressive. He was found to have a MTHFR mutation, and I started him on L-methylfolate. Again, this made him more agitated and irritable. Is there anything else that can be used so that he can utilize the protein he needs with having the MTHFR gene mutation?

    Thank you,

    • Dr. Udell says:

      It appears that some individuals are methyl-sensitive. Folinic (leucovorin) is the alternative that we try, sometimes met with success, and sometimes the same ‘stimmy’ result.

  2. Natalie Hammer says:

    Dr. Udell,
    My son was diagnosed with autism at 22mos; started to exhibit clear signs at 12-14 mos. He is now 7 and I am trying everything I possibly can. I don’t know if he has the MTHFR mutation but I know I have one gene variant of it from going through fertility treatment it was found and I was given blood thinners the first 12 weeks of pregnancy and then discontinued. Every time I had blood tested before pregnancy if always came back low B vitamins. I have seen pictures and things on the internet that talk about MTHFR and sacral dimples; not sure if that is something that goes hand in hand with it; although my son was never tested for the genetic mutation, he has a small sacral dimple which my daughter does not and it makes me wonder. We give him a product called spectrum needs that has Folate, provided as activated folate (5-methyltetrahydrofolic acid) and folinate in it, should I be adding some other form of folate into his diet?

    Also, what are your thoughts on the Keto diet? I feel like no one in the medical community around me is accepting of vitamins and diets, they only want to do what has been studied clinically and has been approved by the FDA. Which there aren’t any true autism medications that reduce anxiety and stimming…we give our son clonidine and it helps him sleep or if he is overloaded it helps calm him with the side effect of sleep as well.

    I look forward to reading all of your archives and I am happy I found your webpage.

    Warmest Regards,

    • Dr. Udell says:

      It’s fairly easy to get an MTHFR test (available over the internet)… Many variants of sacral dimples. It may be related to MTHFR variants, but get the test anyway. Folate is not the active form, folinic and methyl folate are.
      Keto diet may be helpful, but it is NOT HEALTHY and patients should have testing to make sure that it’s safe.
      You may wish to visit a physician for more information.

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