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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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What causes fumarase deficiency?

Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.
Last updated: 11/6/2012

  1. Fumarase deficiency. Genetics Home Reference. April 2008; Accessed 11/6/2012.