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MTHFR Mutations

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Hi I'm new here and have spent the past few weeks immersing myself in the wealth of knowledge you have all made available here. It's been incredibly helpful as I try to learn everything I can about PANS. So first I just want to say thank you.

My question is, are most PANS kids compound heterozygous for MTHFR? Please excuse me if this is a ridiculous question- I've been barely able to understand the ginetic mutations. I'm asking because I received some of my son's test results and he is compound heterozygous.

Also, can someone explain why it's important to know your mutations? So confused!

Thank you and please excuse my lack of knowledge.

Edited by MountainMom
Added a question.
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I feel that the genetic side of PANS is complicated, and research is in its infancy.  By that I mean, there are lots of theories flying around, not all of which is necessarily well researched.

I did 23AndMe for my PANS son, and I don't even recall his MTHR mutation - which is a little embarrassing.  But I feel that I got contradictory advice about what to do based on his genetics.  But this post gives an explanation for why there might be contradictory advice:


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Hi Mountain Mom,

The big picture is If kiddo is compound hetero for MTHFR, then avoiding regular folate "enriched" foods and vitamins while supplying methylated vit b will provide physiological support to help with the body's effort of fighting the illnesses. I think of it as a car trying to go up hill while not firing on all its cylinders. Improve the cylinder situation and its much easier to get up there.


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  • 2 months later...

My son is compound heterozygous.  If you have mthfr gene mutations your body is less able to turn B12 and Folic acid into methyl-b12 and methylfolate (the form needed by the body).  So one's B levels can be quite high in untreated mthfr gene mutations.  The body has plenty of B vitamins, it just can't effectively convert and use them.   Is your child now supplementing with methylb12 and methylfolate?   My son supplements with the drops.  You have to start very slowly and build up to a higher dose gradually. 




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