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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fumarase deficiency


Other Names for this Disease

  • Fumarate hydratase deficiency
  • Fumaric aciduria
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Treatment

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How might fumarase deficiency be treated?

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.[1]
Last updated: 11/6/2012

References
  1. 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.


Management Guidelines

  • 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.
Other Names for this Disease
  • Fumarate hydratase deficiency
  • Fumaric aciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.