MTHFR Genotype Symptoms, Testing and Treatment

MTHFR is a group of genes with a hilarious name. The handful of genes in this category provide your body with the blueprints to build proteins used by the body for tasks of enormous importance. (Please scroll down for the nitty gritty.)

Awareness of the research on MTHFR has exploded. So, first, I’d like to put this MTHFR thing into perspective. You have approximately 30,000 genes. The MTHFR genes comprise a mere handful. Therefore your MTHFR status is hardly the be-all end-all of your health. If your test results indicate a flaw, who’s to say that one or five other genes are not compensating or completely canceling out the flawed MTHFR? The picture below is a drawing of a portion of all the known metabolic pathways that occur in the body during any millisecond. (If you attempt to zoom into the picture to make sense of it, your brain will explode.) You can see that life is not a simple matter and, though each gene makes an important contribution, each enjoys some margin of error.

That said, since certain MTHFRin’ flaws have been quite solidly linked to a wide array of symptoms (please see below), it’s a really good idea to know what your genetic code has to reveal.

The nitty gritty:

  1. MTHFR flaws prevent your body from activating folate (a B vitamin) as efficiently as possible, which creates a deficiency.
  2. MTHFR flaws may prevent the body from turning homocysteine (which is harmful at high levels) into other compounds (which are helpful). *This is more the case with the C677T SNP.

The nittier grit:

1. MTHFR stands for MethylTetraHydraFolateReductase, which is an enzyme that activates folate. Before this enzyme acts on folate, folate is not ready for the body to use. It just floats around like a nerdy ninth grader at a high school dance. After the MTHFR enzyme acts on folate, folate becomes methylated and is ready for the body to use.

Methylation is when a carbon and two hydrogens get stuck onto another molecule like a Lego piece. It’s a crucial activity the body takes part in trillions of times per second. Without methylation, very little in the body would get accomplished.

2. The fully-functioning MTHFR pathway converts homocysteine to methionine. Whereas methionine is very useful and pretty harmless, homocysteine is inflammatory when it reaches certain levels. Guess when increased homocysteine is an even bigger problem… When folate is low (see #1!)


Some of the symptoms of a flaw in an MTHFR gene

So far, studies have primarily focused on two medical fall-outs of MTHFR flaws: heart disease & pulmonary embolism. This is specifically because of an increase in homocysteine, which is an inflammatory compound.

But, other associated conditions have also been indicated. Some medical professionals tighten their focus to what has been explored in the scientific research. In my opinion, it’s also worthwhile to explore the observations of independent practitioners. This expanded list includes:

  • Severe depression
  • Miscarriage
  • Addiction
  • Fibromyalgia
  • Schizophrenia and other disorders
  • Colon cancer
  • Autism
  • Dementia
  • High homocysteine (9+ in adult, 6+ in children)
  • High B12 without supplementation or with supplementation with the cyanocobalamin form

How to test for MTHFR flaws

There are many ways to test your MTHFR status. I recommend these two strategies:

  1. Blood test by SpectraCell labs or Quest Diagnostics.
    • This test reports on only two of the MTHFR genes.
    • Keep in mind, your insurance may require that your test is ordered through your doctor.
    • Your doctor must have an account with SpectraCell labs to order this test.
    • I can order either one for you.
    • You can order the Quest test yourself via (if the MTHFR test isn’t listed online, give them a call).
  2. Cheek swab by

What do you do if you have an MTHFR flaw?

Treatment of an MTHFR flaw involves taking a supplement that contains activated folate. It’s potentially that straight forward. But, since everyone is so wonderfully unique, there is likely more to consider. (Ex. Flaws in MTHFR C677T are more highly correlated with health issues than flaws in MTHFR A1298C.)

But a supplement geared specifically toward MTHFR is a good first step. I like this one (get a discount at my online dispensary, using code “Buzzut”). It includes other nutrients that are supportive of the MTHFR pathway, such as B12 (methylcobalamin or hydroxycobalamin), activated B6 and trimethylglycine.

By the way, folic acid and folate are completely different things. Folic acid is oxidized (and therefore likely toxic), whereas folate is the form the body is willing and able to use. As with many things, $$ talks. Folic acid is cheaper than folate, therefore it is found in most vitamin supplements. If you are a human, taking folic acid is not ideal for long-term use. Humans with an MTHFR flaw are especially encouraged to take the activated form to make it easier on their bodies. (Activated folate has many names: methyl folate, Metafolin®, L-5-MTHF and “delicious leafy greens”). Folinic acid is another form of folate supplement, which is preferred by some.

Want more information?

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: