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Other Names for this Disease
- Fumarate hydratase deficiency
- Fumaric aciduria
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microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have
Last updated: 11/6/2012
- Fumarase deficiency. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition/fumarase-deficiency. Accessed 1/20/2012.
- Vivian E Shih and Roseann Mandell. Fumarate Hydratase Deficiency. GeneReviews. June 2, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1506/. Accessed 11/6/2012.
- Genetics Home Reference (GHR) contains information on Fumarase deficiency. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fumarase deficiency. Click on the link to go to OMIM and review these resources.
- 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 Fumarase deficiency. Click on the link to view a sample search on this topic.