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Fumarase deficiency
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Overview
Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have 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.[1] No effective treatment is currently available.[2]
References
- Fumarase deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/fumarase-deficiency. Accessed January 20, 2012.
- Vivian E Shih and Roseann Mandell. Fumarate Hydratase Deficiency. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1506/. Accessed November 6, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Fumarase deficiency. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The 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.