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Other Names for this Disease
- Fumarate hydratase deficiency
- Fumaric aciduria
There is currently no effective treatment for fumarase deficiency. Nutritional intervention may be appropriate for children with feeding difficulties. Physical therapy and wheelchairs can also be useful for some individuals.
Last updated: 11/6/2012
- 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.