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Genetic and Rare Diseases Information Center (GARD)

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Homocysteinemia due to MTHFR deficiency

Other Names for this Disease
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to MTHFR deficiency
More Names
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How might homocysteinemia due to MTHFR deficiency be treated?

The optimal treatment for people with homocysteinemia due to MTHFR deficiency is unknown.  Studies of treatment with folic acid, vitamin B6, and vitamin B12 supplementation have been reported; however the benefit of this treatment is unclear. While vitamin therapy can reduce the levels of homocysteine, the evidence that these lower levles are associated with a reduction in the risk of complications due to homocysteinemia is lacking. Much of the literature on this topic is conflicting, with some studies reporting benefit, some no improvement, and some an increased risk for complications.[1][2]
Last updated: 7/20/2011

  1. Homocysteine. American Academy of Family Physicians. 2006; Accessed 5/13/2009.
  2. Goodnight SH and Griffin JH. Hereditary Thrombophilia. In: Ernest Beutler, Marshall A. Lichtman, Barry S. Coller, Thomas J. Kipps, and Uri Seligsohn. Williams Hematology, 6th ed. Philadelphia, PA: McGraw-Hill ; 2001;

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Homocysteinemia due to MTHFR deficiency. Click on the link to go to to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name Betaine
Trade Name
(Manufacturer Name)
(Jazz Pharmaceuticals)
The FDA has approved this product to be used in this manner.
Treatment of homocystinuria to decrease elevated homocysteine blood levels.
More Information about this product Drug Information Portal
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