top of page

MTHFR, what is it?

You probably have heard of MTHFR and wondered what the heck is that? MTHFR stands for methylenetetrahydrofolate reductase. This gene provides instruction for the body on how to make the active enzyme. MTHFR gene mutations cause problems in the methylation pathways especially associated with folic acid.

A MTHFR gene mutation can disrupt the pathways that metabolize and turn nutrients from dietary intake into active forms of vitamins, minerals and protein. This genetic mutation my also contribute to issues with neurotransmitters and hormone levels.

Research does not have an exact list of conditions and signs and symptoms of MTHFR mutations yet. Some common symptoms that have been found are:



Depression and Anxiety

AutoImmune Disorders

Chronic Pain


Heart problems, especially low HDL

Female Hormone imbalance (especially infertility and PCOS)

Chronic Fatigue

Irritable Bowel Syndrome

Pregnancy issues (due to low folate levels mostly)

Laboratory testing is the only way to determine if you have a mutation of MTHFR.

Patients that have the mutation should supplement their diet with l-methylfolate to improve the methylation pathways. Gut health and intestinal permeability issues if present will likely require dietary modification and use of probiotics and digestive enzymes.

We are happy to announce that we can test for MTHFR in the clinic with our lab partner Vibrant Wellness. MTHFR testing is $125.00 which includes a 30 minute report of finding with me!!

bottom of page