Guest guest Posted March 26, 2012 Report Share Posted March 26, 2012 Hi Group, I have been focusing on my POTS since it seems to be worse now that ME/CFIDS. I am fascinated by the connection. I also find interesting that in the book " Primer on the Autonomic Nervous System " , there is a chapter on tetrahydrobiopterin Deficiency (BH4) pg 201 by Hyland. Here is some of the info from Chapter 38: " BH4 is the cofactor for tyrosine hydroxylase and tryptophan, the rate-limiting enzymes required for the synthesis of the catecholamines (dopamine, norepinephrine and epinephrine) and serotonin. .... The various defects of BH4 metabolism that occur within the CNS lead to a deficiency of serotonin and the catecholamines.....hence, defects in BH4 leads to hyperphenylalaninemia......Changes are thought to occur as a result of insidious folate deficiency.... " I know that I have this deficiency as tested for methylation pathway defect (same test as for autistic children). The gene MTHFR A1298C is where I am heterozygous ( + -) which affects the removal of ammonia and use of BH4. So I should be supplementing with BH4. MTHFR C677T which deals with folate metabolism is also heterzygous (+ -) which means that my body has a difficult time converting folic acid to bio-available forms, first folinic acid then folate (5 methyltetrahydrofolate) causing a folate deficiency. Also, I know from Organic Acids tests (urine, plasma)that my phenylalanines are elevated. I doubt that my levels qualify me for a diagnosis of hyperphenylalaninemia but perhaps this is contributing to my POTS. After the glutathione trial, I plan on starting the treatment for BH4 deficiency and am hopeful that this will make my POTS more manageable. Then I reviewed some of Rich's papers and Dr. Yasko Methylation diagram and found that Dr. Yasko tests for the ACE gene (I don't think the ACE gene is part of 23andme data). Anyway, going past glutathione on the diagram, you get to Angiotensin I -> Angiotensin II which I have seen some POTsies discuss (but which I do not understand it's relation to POTS). I think I have seen posts on different forums about tests for antibodies to Angiotensin II? I haven't started looking at this but thought I would point it out. Has anyone made the connection between ME/CFIDS and POTS (beyond the fact that the symptom lists are very much the same). I mean in terms of the genetics or biochemistry. Marti Quote Link to comment Share on other sites More sharing options...
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