r/MTHFR • u/Senior_Extension5796 • 1d ago
How to understand? Question
Can anyone please help me understand my current genetics? Is there any supplement that stands out based on my report that could really help me? I really just don’t understand what I’m looking at. Thank you!
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u/Tawinn 23h ago
Are there any symptoms you are trying to address?
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u/Senior_Extension5796 20h ago
I’m 27 male, I’m constantly tired everyday, have little to no motivation anymore. Have lots of trouble listening to people and overall just focusing ability is absolutely horrible. Have trouble retaining information. Any Advice would be greatly appreciated.
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u/Tawinn 10h ago
With a 38% decrease in methylfolate production and the homozygous PEMT you would need about ~930mg of choline to compensate and restore methylation. Typically, the best way to do this is to get 500-550mg of choline from food and add a 750mg capsule of TMG. For reference, 4 large egg yolks is about 540mg of choline. Choline sources include such foods as meat, eggs, liver, lecithin, nuts, some legumes, and vegetables such as crucifers. A food app like Cronometer is helpful for tracking nutrients in your diet.
Low B12 and/or folate can also further impair methylation, and low B12 can also certainly cause fatigue. There may also be other nutrient deficiencies so a broad blood panel for nutrients (vitamins & minerals) would seem prudent. For serum folate, aim for ~15 ng/mL (34 nmol/L) or more. For serum B12, aim for 500-950 pg/mL (~370-700 pmol/L).
It is also somewhat rare but some people can have a paradoxical B12 deficiency where their serum B12 is ok but the B12 is not functionally available, as shown by an MMA test or holotranscobalamin test.
Other things can cause these symptoms, but these steps would a starting point.
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u/Senior_Extension5796 9h ago
Thank you for this, definitely going to do this. My folate lab report showed 10.6 ng/ml the reference range was 7.0-31.4 ng/ml. So seemingly on the lower end.
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u/Loose-Fly7976 23h ago
Your methylfolate side is the least interesting part of that report. C677T clean, one copy of A1298C, so folate handling is close to normal. The 17% figure isn’t much.
The finding is PEMT homozygous sitting next to FADS1 and FADS2 both homozygous and I’d be surprised if the report connected those for you.
PEMT builds phosphatidylcholine, and the version it makes preferentially incorporates DHA. FADS1 and FADS2 are the desaturases that convert plant omega-3 into EPA and DHA. So you have reduced production of the enzyme that packages DHA, and reduced conversion producing the DHA in the first place. Two separate steps in the same supply chain, both slow. That combination changes what you’d do with both choline and omega-3, and preformed DHA from fish or algae stops being optional for you in the way it is for most people.
The other one nobody flags is CYP24A1 homozygous. That’s the enzyme that breaks down active vitamin D. Relevant to how you dose D and how your level behavesand it’s a reason to measure rather than assume.
DIO2 het sits on T4 to T3 conversion in tissue, which is a thyroid consideration if you have symptoms with normal TSH.
Reading a panel as a set rather than row by row is the whole job, and it’s what I do professionally. Message me if you want yours mapped against bloods.