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Diseases

Genetic and Rare Diseases Information Center (GARD)

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
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Overview

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: 3/27/2015

References

  1. Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.
  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 Homocystinuria 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

  • 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 Homocystinuria due to MTHFR deficiency. Click on the link to view a sample search on this topic.
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.