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I recently found out (from 23andme) that I am heterogeneous (one copy of the "bad" gene) for the MTHFR C677T polymorphism. This means that my body has reduced ability to convert folate into the active form of folate (5-methyltetrahydrafolate). From what I understand this means I am an under-methylator. I tend towards anxiety/depression which is sympomatic of problems with the folate cycle.

I have also learned impared folate metabolism can lead to elevated levels of homocystinine, which increases risk of cardiovascular and other health risks. Ok, fine. So I had my homocysteine levels tested and I am at 10.2umol/L.

It's at the high-end of normal, according to some such as Dr. Emily Deans who defines high as 11.3umol, others say 13, others say even higher. Given that homocystineine levels tend to rise with age, I think I should be somewhat concerned. What do you think?

What should an appropriate course of action be?

Is more testing in order?

Should I supplement B6? B12? 5-MTHF? Folate? A B-Complex? Seeking advice or anecdotes.

Thanks!

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I discovered I had this gene (hetero like you) on 23andme and started taking the active folate. Then I had a blood test and my folate was absurdly high. I have sinced eased off on the supplementation as in spite of my wack gene, I seem to be methylating just fine, at least on that part of the pathway. I have read it's not great to be too high on folic acid in the blood. I never got my homocysteine measured though, would be interesting to see that. As I don't live in the US it's pretty hard to get less common blood tests just on your own initiative though.

From what I read, those of us who are heterozygous metabolize about 60 per cent of our folate intake (correct me if you've read differently). So if you eat a paleo/primal diet, you may still meet your needs quite easily. So supplementation may not be necessary. IF you are homozygous for that gene though, you only take in a small amount of your dietary folate, and you definitely need to supplement.

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60% is the figure I've read too, and I'm also concerned with pushing my folate levels too high. I'm curious, what dose were you supplementing with? – Andy Oct 21 2011 at 20:19
1000mcg l-methylfolate - the LifeExtension brand. I have not had my folate levels retested since I eased off, to see if they've reduced. – esque Oct 23 2011 at 10:13
Sorry, that was daily. – esque Oct 23 2011 at 10:14
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When I got pregnant my doctor discovered I have this "bad gene" too (also confirmed by 23andme) and prescribed Folapro which contains Metafolin, an active form of folate called L-5-methyl tetrahydrofolate. My homocysteine level is around 5 though (5.0-12.0 umol/L). It was at 8 right before I was pregnant. My blood levels of folic acid have stayed high, but I guess that doesn't matter when we're talking about an inability to metabolize it.

You can order Folapro from Amazon if that's the way you want to go.

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I'm heterogeneous as well... – Gazelle Oct 21 2011 at 11:34

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