You’ve read about MTHFR, decided you had reason to suspect it plays a role in your and/or a family member’s health, and been tested. The results showed that you (and/or the family member) do, in fact, have MTHFR mutations. But now you’re not sure what that means, practically speaking, what you need to do, etc. In short, where do you go from here?
Find a Practitioner
If you’re expecting to need any supplementation beyond basics like a multivitamin, especially if there are other methylation mutations present, it’s best to find a practitioner experienced with MTHFR. There’s a practitioner directory on Dr. Lynch’s site, or you can just ask around. If you have a good doctor already and he just isn’t very familiar with MTHFR, you can try taking the information from knowyourgenetics or Strategene so he can work from that.
I wouldn’t bother with a “genetic counselor”; they’re typically not familiar with MTHFR, only with genetic “diseases” and will be unhelpful at best or, more likely, flat-out wrong.
Reduce Toxic Load
A lot of what is important with MTHFR is really the changes everyone should be making, for healthy living. They’re just a bit more essential to someone with an impaired ability to detox. That is especially true in this area of toxins. You’ll want to do things like:
- eat real, whole foods rather than processed ones
- avoid GMOs whenever possible (Most GMOs are created to withstand glyphosate, which also results in their taking up more glyphosate from the soil — and then we eat it. This glyphosate is destructive in the gut in ways that MTHFR folks already struggle with, so it’s a double whammy.)
- swap toxic household cleaners and other products for natural ones
- replace toxic personal care products with natural ones
- reduce environmental exposures where possible (I know this is least within our control, but sometimes awareness can provide opportunities.)
- avoid unnecessary medications, etc.
- seriously consider skipping vaccines
Most of these are not going to be surprising changes for readers of this site, and you’ll find some concrete tips for ways to implement them throughout.
Let me explain a little more about vaccines, though, and why they’re on the list, since they’re more controversial than the other items. Whether or not to vaccinate is, of course, a choice each family needs to make. There are risks and benefits on both sides, and what is of great importance — or concern — to one may be less significant to another. An important element of informed consent is the ability and right to weigh those risks and benefits for your own family, given your own situation.
However, MTHFR is a factor that may influence that situation. No studies have been done on children and vaccines, with regard to MTHFR. It’s considered to be unethical to do so. However, there is some evidence to suggest that those with MTHFR mutations may be more prone to vaccine injury than those without (possibly due to their greater susceptibility to toxins). A study was done on adults receiving the smallpox vaccine, and this study did show a significant increase in “adverse events” in those with the MTHFR polymorphism. (C677T was the particular mutation examined in this study.) In the authors’ words, “An SNP in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) was associated strongly with the risk of AE [adverse event] in both studies.”
Avoid Folic Acid & Get Plenty of “Good” Folate
The terms “folic acid” and “folate” are often used interchangeably, even among medical and nutrition professionals, but this is inaccurate. Folate is something of an “umbrella” term for a group of substances, and folic acid (virtually always synthetic or otherwise produced by manufacturing processes) is only one of these substances. More to the point, folic acid is not a biologically active form of folate, and requires conversion by the body before it can be used — this conversion is exactly what MTHFR-mutated individuals don’t do effectively.
This means two things:
- We need to get plenty of folate, especially in forms that are already biologically active — essentially in the “pre-converted” forms. Bypassing the need to convert folates via the MTHFR enzyme allows us to get more usable folate while keeping as much MTHFR as possible free for other functions.
- We need to not clog up the works. What I mean by that is, there’s some indication that if we take in large quantities of unconverted folate that we aren’t able to convert, it ties up folate receptors so they are then unavailable for the otherwise-usable folate.
So you want to avoid folic acid in foods and supplements. This is a little tricky (especially with inaccurate labeling). Any folate added to food in the U.S. is folic acid (this is a legal requirement), so if it isn’t naturally-occurring, it’s synthetic folic acid. If “folic acid” is in the ingredients, if “enriched flour” is one of the ingredients, it definitely contains folic acid. If a bread or similar product says “enriched” or “fortified,” it almost certainly contains folic acid. If other food products say “fortified” or “enriched,” it depends on the product. (Almond milk, for instance, is often fortified with folic acid; cow’s milk is usually fortified with vitamins A & D but not folic acid.)
If the nutrition panel says folic acid but none of the previous things are true, you might need to dig a little deeper to determine whether folic acid is added or naturally-occuring folate is mislabeled. Call the manufacturer and ask if it has added folic acid.
[UPDATE July 2023: In 2020, the labeling requirements in the US for folate changed, making it much easier to understand the nutrition panel. The label is now required to use “folate” as the default term, and to specify what form added folate takes.]
Some people will try to tell you that folic acid and other folates are essentially the same and the body doesn’t know the difference; we know this is untrue. The FDA has an upper limit set for folic acid, but not for naturally-occurring folates. More significantly, the upper limit is not especially high, especially for those taking supplements. The upper limit for adults is 1000 mcg, and for children ranges from 300-800 mcg (depending on age). With most multivitamins containing 400-800 mcg, it doesn’t take much to get excess if you’re also eating enriched foods. A murine (mouse) study showed that excess folic acid produced symptoms of MTHFR deficiency, even in subjects without mutations.
When looking for supplements, methylfolate (see this link for more information about what names it might show up under) is typically a better option for those with MTHFR mutations, along with the methylcobalamin form of vitamin B12. There are exceptions, though. Those who also have COMT mutations may struggle with the extra methyls these vitamins contain, and do better with folinic acid (note the extra syllable and don’t confuse it with folic acid) and the hydroxycobalamin and/or adenosylcobalamin forms of B12.
Chances are you’ll know pretty quickly if you don’t tolerated methylated vitamins. In that case, they usually produce “hyper-reactive” effects, like difficulty sleeping, irritability, anger, etc.
Foods that are naturally high in folates are a good option, too. It’s generally pretty difficult to “overdose” on nutrients in food (naturally-occurring — with synthetic “fortification,” all bets are off). The body seems to simply use what it needs and discard the rest, not creating buildup of unused vitamins the way it does with synthetics.
Skip Certain Drugs
Acetaminophen (Tylenol) depletes glutathione. Those with MTHFR mutations already tend to be low in glutathione, because it’s produced by the methylation cycle, so acetaminophen can exacerbate the issue.
Nitrous oxide (“laughing gas”) increases homocysteine levels and decreases vitamin B12 — again things those with MTHFR mutations already tend to have issues with.
Consequently, both of these drugs are best avoided in favor of alternatives. (There are some other drugs MTHFR folks might be at somewhat higher risk of reactions to — such as some antibiotic allergies — but they’re not as universal, so just be aware.)
In Summary…and One Final Note
I know this post seems a bit long, but it’s mostly details. As you can see, there are only a few specifics (avoid folic acid and try to get better-quality folate instead, and skip Tylenol & nitrous oxide) that really are unique to MTHFR. For the most part, it’s simply a matter of decreasing the toxic load — which, ideally, everyone should be doing anyway — to free up the available MTHFR for other functions besides detoxification (and for dealing with those toxins that are simply unavoidable).
One final note, though: tongue ties are very common among those with MTHFR, due to the impairment of folate processing. A tongue tie can, itself, cause a variety of health problems, but is readily correctable. We’ll talk more about tongue ties in a future post.