Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

MTHFR gene mutation

*

* Not a rare disease

Other Names for this Disease

  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might an MTHFR gene mutation be treated?

No treatment is recommended for people with MTHFR gene mutations who do not have elevated blood levels of homocysteine. Treatment for elevated homocysteine levels is the same whether the elevation is caused by MTHFR gene mutations or some other factor (i.e. vitamin deficiencies). It is recommended that people increase their intake of folic acid, vitamin B6, and vitamin B12 by adjusting their diet or taking supplements. Although vitamin therapy is often successful in lowering homocysteine levels, it is unclear whether this reduction actually decreases the risk for the various health problems that may be associated with MTHFR gene mutations.[1]  

Women considering pregnancy should discuss their MTHFR gene mutation status with their healthcare provider. Some physicians may recommend a higher dose of folic acid supplementation than what is generally recommended during pregnancy due to a possible link between MTHFR gene mutations and neural tube defects.[1]  
Last updated: 12/11/2014

References
  1. Varga EA, Sturm AC, Misita CP, Moll S. Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease. Circulation. 2005; 111:e289-e293. http://circ.ahajournals.org/content/111/19/e289.full. Accessed 9/18/2012.


Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.