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Diseases

Genetic and Rare Diseases Information Center (GARD)

MTHFR gene mutation

*

* Not a rare disease
Información en español

Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
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Treatment

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How might a MTHFR gene mutation be treated?

High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin).[1][2]

It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered.[3][1] We recommend that you talk to your doctor to learn if supplementation would benefit you.

Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
Last updated: 2/8/2016

References
  1. Folate. Linus Pauling Institute Micronutrient Information Center. 2014; http://lpi.oregonstate.edu/mic/vitamins/folate#disease-treatment.
  2. American Association for Clinical Chemistry. Homocysteine. LabTestsOnline. April 30, 2014; https://labtestsonline.org/understanding/analytes/homocysteine/tab/test.
  3. Rosenson RS & Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015;
  4. 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.
  5. Liew SC & Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015 Jan; 58(1):1-10.


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied MTHFR gene mutation. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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.