Fumarase deficiency

Fumarase deficiency
Other namesFumarate hydratase deficiency
Fumarate is converted to malate by fumarase.

Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle, characterized by a deficiency of the enzyme fumarate hydratase, which causes a buildup of fumaric acid in the urine and a deficiency of malate. Only 13 cases were known worldwide in 1990, after which a cluster of 20 cases were documented in the Short Creek community located in Arizona, US, that has practiced successive endogamy.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.