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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
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Overview

Homocysteinemia due to MTHFR deficiency is a metabolic condition characterized by neurological problems, such as developmental delay, seizures, and microcephaly. Signs and symptoms of vary from no symptoms to severe neurologic and blood vessel disease. It is inherited in an autosomal recessive fashion and is caused by mutations in the MTHFR gene . These mutations may cause a mild to severe loss of activity of the MTHFR enzyme and result in elevated levels of homocysteine in the blood (homocysteinemia) or urine (homocysteinuria). The most common MTHFR gene mutation is the C677T mutation. Health problems tend not to be related to whether someone has a MTHFR gene mutation or even a MTHFR enzyme deficiency, but whether the deficiency is leading to elevated levels of homocysteine in the blood (homocysteinemia) or urine. [1][2]
Last updated: 7/20/2011

References

  1. MTHFR. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/11/2011.
  2. 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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Homocysteinemia due to MTHFR deficiency. This website is maintained by the National Library of Medicine.
  • LabTests Online provides information on testing homocysteine levels in general. Click on LabTests Online to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Homocysteinemia due to MTHFR deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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