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

Homocystinuria 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
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have MTHFR deficiency. Can you tell me more about this in lay language?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is homocysteinemia due to MTHFR deficiency?

Homocystinuria due to MTHFR deficiency refers to a metabolic condition caused by rare MTHFR gene mutations that result in severe homocystinuria, abnormal clotting, developmental delay, seizures, intellectual disability, and microcephaly.[1] It is inherited in an autosomal recessive fashion.

For more information on common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation
Last updated: 7/20/2011

What are the signs and symptoms of homocysteinemia due to MTHFR deficiency?

This severe homocystinuria is caused by rare MTHFR gene mutations (sometimes in combination with a second common MTHFR gene mutation). Signs and symptoms vary, but often include pronounced neurological symptoms and blood vessel disease. The age of the patients when they first experienced symptoms varied from infancy to adulthood.[2]

For information on signs and symptoms reported in association with common MTHFR gene mutations, such as C677T, please visit our MTHFR Gene Mutation resource page.
Last updated: 4/14/2015

What causes homocystinuria due to MTHFR deficiency?

Homocystinuria due to MTHFR deficiency is caused by mutations in the MTHFR gene. This gene tells the body how to make an enzyme, also called MTHFR. MTHFR is important for a chemical reaction in the body involving forms of the vitamin folate. Mutations in the MTHFR gene result in an enzyme that doesn't work like it should, causing a buildup of homocysteine in the body.[3]
Last updated: 4/14/2015

How is homocystinuria due to MTHFR deficiency inherited?

Homocystinuria due to MTHFR deficiency is inherited in an autosomal recessive fashion, which means that both copies of the gene in each cell have mutations in the MTHFR gene.[1]

For more information on the inheritance of common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation
Last updated: 4/14/2015

Is genetic testing available for homocystinuria due to MTHFR deficiency?

Genetic testing for homocystinuria due to MTHFR deficiency is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for MTHFR deficiency. To view the contact information for the clinical laboratories conducting testing click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 4/14/2015

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.[4][5]
Last updated: 7/20/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

References
  • Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.
  • Homocystinuria due to deficiency of N(5,10)-Methylenetetrahydrofoloate reductase activity. Online Mendelian Inheritance in Man. 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236250. Accessed 5/13/2009.
  • MTHFR. Genetics Home Reference (GHR). Februrary 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/14/2011.
  • Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.
  • 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;
  • Homocystinuria due to deficiency of N(5,10)-Metylenetetrahydrofolate Reductase Activity. Online Medelian Inheritance of Man (OMIM). June 2007; http://www.omim.org/entry/236250. Accessed 7/11/2011.
  • Rosenson RS, Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 3/27/2015.
  • 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. Accessed 3/27/2015.
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
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.