MTHFR is the acronym for Methylenetetrahydrofolate Reductase, an enzyme that allows the liver to properly utilize folic acid (through methylation). If an individual even has one altered copy of the gene for this enzyme, it can impact health. Individuals with two altered copies, whether that is two copies of the same alteration (homozygous) or two copies of different alterations (compound heterozygous), have significantly reduced functioning of the MTHFR enzyme, and will see more health impacts.

Testing for genetic variations is becoming more common for genes such as MTHFR, especially with services like  However there are still insurance coverage issues for these genetic tests, so medical consumers must be aware of this, even when their doctor orders the test for medically relevant reasons.

Here is a list of good articles about the MTHFR gene and the impacts it can have on you or your family’s health. Estimates are that about 50% of the general population has at least one gene alteration for MTHFR. For some ethnic groups, as much as 15% of individuals may be homozygous (that means they have no fully working copy of the gene for the MTHFR enzyme). Decreased functioning of the MTHFR enzyme has been correlated to cardiovascular disease (primarily the C667T mutation), miscarriages, colon cancer, glaucoma, impaired liver detoxification, poor reactions to vaccines, and mental health conditions (A1298C mutation) such as autism, ADD/ADHD, depression, anxiety, bipolar disorder, and schizophrenia. Hence it could lead to significant improvements in health for you and your family to be tested and address any compromised MTHFR enzyme function through methylfolate and active B12 (methylcobalamin &/or adenosylcobalamin) supplementation and diet.

Introductory Articles:

Testing for MTHFR:

Consider whether testing through (kit available at Target for $29.95, with a follow-on $169 fee when sending it in to will be the most economical choice. Insurance does not often cover genetic testing, even if ordered by your doctor. You also have to decide whether you want additional genes tested, and whether you are comfortable with the terms and conditions of genetic analysis. 

Analysing Genetic Information:

Once you have your genetic data through a service like, you’ll need to produce reports to review with your doctor and asses your methylation status.

  • ($19.95)  Gives an extensive report on 100’s of SNPs.  Information about the function of those genes is very basic.  Additional reports available.
  • Dr Lynch’s Strategene report ($45)
    Gives comprehensive metabolic diagrams showing where your genetics may impact functioning. Very good resource to bring with to a specialist.
  • (requested $10 donation).  Methylation report used by many doctors.
  •$5) Very comprehensive, interactive report, including statistics and potential pharmacological interactions with your phenotypes.

Information on Treating MTHFR Gene Alterations:

Details on Methylfolate therapy side effects:

There appear to be three types of responses to methylfolate:

FIRST: A person who can jump on methylfolate and feel absolutely wonderful. The only down side they experience is why didn’t they know about methylfolate before?!

SECOND: A person starts methylfolate has an amazingly incredible week where they are happy, interacting and alert. Then the second week comes and they switch to wanting to hide in a room by themselves or literally throw dishes across the room out of anger. Or they may become bed ridden from muscle aches, intense headaches or joint pain.

THIRD: A person takes a small amount of methylfolate and feels all the methylfolate side effects right out the gate.

[Potential] Methylfolate Side Effects:

  • irritability
  • insomnia
  • sore muscles
  • achy joints
  • acne
  • rash
  • severe anxiety
  • palpitations
  • nausea
  • headaches
  • migraines

Comprehensive Articles on Health Impacts of MTHFR Gene Alterations:

Related Genes That Impact MTHFR Treatment:

Reference Websites: