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MTHFR

MTHFR is the gene which provides the blueprint for making the enzyme  methylenetetrahydrofolate reductase.  This enzyme is responsible for converting folic acid from dietary sources or from supplements into the active form 5-methyltetrahydrofolate (5-MTHF). Individuals with mutations in the MTHFR gene will have a problem converting folic acid into the active form​ 5-MTHF. Depending upon the specific mutation as well as the number of mutations, the degree to which this conversion process is disrupted can vary.

Folic acid has many important functions in our body.  Perhaps one of the most important functions of folic acid is its role in ​​both DNA production as well as DNA repair.  Folic acid also plays a role in red and white blood cell production.  It also plays a role in neurological development as well as activating neurotransmitters in the brain which control mood.

Testing for the defect involves a simple blood test or a swab of your inner cheek to collect the DNA.​​  Ordering the test through insurance however is sometimes tricky as insurance companies will often cover it only if certain neurological symptoms are present, or specific abnormalities are seen in other blood tests.  The problem is that for many of the patients with this genetic abnormality is that certain symptoms and laboratory marker are not always present.  This does not mean they they should not be tested.

The following are symptoms that ​​make us consider  the MTHFR genetic test:

  • Any neurolgical symptom including numbness, tingling, lack of coordination or any symptoms of impaired mental status                    that are not explained by any other medical workup.​

  • Depression, anxiety or other mood disorder (especially that is​​ resistant to standard treatment either prescriptions or ​​natural      treatments)

  • "Brain fog"--feeling like you have a head cold without the cold symptoms (inability to concentrate or focus)

  • Fatigue that can not be explained by other conditions or that doe not respond to treatment as expected

  • ​​​Hormonal symptoms that do not always correlate with blood hormone levels or that do not respond to treatments ​​designed            to correct hormonal imbalances or deficiencies.

  • Recurrent miscarriages or ​a history of birth defects.


While certainly not everyone needs this test, it is a very important consideration in patients who are not getting results from therapies ​​whether they are standard or alternative.  The treatment can be simple for patients suffering from this condition.