This is okay science, and unlike most times people link to these kinds of things on here I'm not going to throw a fit. But a few caveats:
First of all, my totally unfounded opinion is that the guy you're linking to seems sketchy as hell. His site implies he is a doctor a bunch of times, including his biography talking about when he entered medical school, but the only degree listed is one from a college of "naturopathic medicine". He founded a sketchy online pharmacy that sells (among other things) homeopathic solutions. He believes that vaccinations cause autism, at least in MTHFR babies (aka 1/4 of the population). And he fits a very worrying stereotype of the doctor who prescribes the same cure for almost every disease, and recommends that if it doesn't work you just need to "optimize" his cure a little more carefully, as opposed to consider that other factors may be involved.
I don't actually know anything about the research on this subject, but because of the red flags raised above I've tried to investigate it very briefly and see what it looks like. You should probably ignore everything below, but just out of curiosity:
Dr. Lynch seems to think that if you have MTHFR, taking more folic acid will be harmful to you. The way I've heard it is that taking more folic acid compensates for the lowered activity of MTHFR (see for example Linus Pauling Institute. Studies have also shown that low blood folate raises homocysteine levels.
If that's correct, then supplementing with MTHF would have similar effects to supplementing with normal folate - ie a mixed bag that seems to include higher risk of many cancers.
And although conventional wisdom is that homocysteine is a harmful amino acid that causes cardiovascular disease, this has been confirmed in correlational studies only and interventional studies have failed to show that decreasing homocysteine lowers heart attack risk.
My guess is that most of the disease associations Dr. Lynch mentions as linked to MTHFR are actually linked to folate in general, and people with MTHFR are more likely to have low folate and therefore disease. For example, Dr. Lynch mentions that MTHFR affects autism risk, Down Syndrome risk, neural tube defect risk, etc, but folic acid in general also affects all of these things. Likewise, this study shows that babies with mutant MTHFR have more autism, but that this effect only holds true in countries without folic acid supplementation - the implication being that in countries with folic acid supplementation, pregnant women have enough folic acid whether they have a gene that decreases their levels slightly or not.
I admit I have tried to read the important parts of his site but I haven't gotten to all of it, so maybe it explains his unconventional views on folate levels vs. MHTF levels somewhere.
Although Dr. Lynch recommends spending $150+ to get yourself genetically tested, my suggestion if you're worried about this or any other gene is to sign up for 23andMe and get all your common mutations sequenced in one go for $99. If you already have 23andMe data, you can find your version of the gene Dr. Lynch is talking about by clicking in the gear in the upper left hand corner, going to "Browse Raw Data", and then searching for SNP rs1801133. 23andMe uses opposite notation from most other sites, so the homozygous normal will be listed as GG, heterozygous as GA, and mutant as AA.
(I seem to be part of the lucky 25% who has the AA version. Maybe this explains my constant addictive infectious depressed demented diabetic cancerous heart attacks)
Your doctor can test you for folate deficiency. If you're really concerned about your health it's not a terrible idea, though it's no more important than about thirty other tests you could also get. If you have the mutant gene, maybe have a slightly more stringent standard than normal for what counts as deficiency? I don't know. In any case, you can supplement with MTHF if you want, but as mentioned before it will probably have about the same effect as normal folate supplementation - great for people with deficiencies and for pregnant women, probably just a little more cancer in everyone else. You can read more here.
The only exception is that if your psychiatrist recommends it for depression, you will need the MTHF version since the normal version can't directly enter the brain. Your doctor will recommend an expensive Official Medical Version of it. As far as I know, the MTHF you can get off Amazon for $15 works exactly as well.
I would be really interested in hearing from anyone who knows more about biochemistry or has studied these areas in more depth.
The guy you're linking to seems sketchy as hell.
I agree. The reason I chose that specific page is because I did not find an adequate alternative list. I tried Googling site:.gov "symptoms of MTHFR" and site:.edu "symptoms of MTHFR" and only one result comes up - but it's specifically for homocysteinemia. That one result is reputable (nih.gov) but I know that it does not contain a full list of symptoms. It has left out important symptoms like depression and fatigue, which I know to be associated with MTHFR because I know people w...
P/S/A: There are single sentences which can create life-changing amounts of difference.