Ontology highlight
ABSTRACT:
SUBMITTER: Picaud S
PROVIDER: S-EPMC3109261 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Journal of inherited metabolic disease 20110329 3
Fumarate hydratase catalyzes the stereospecific hydration across the olefinic double bond in fumarate leading to L-malate. The enzyme is expressed in mitochondrial and cytosolic compartments, and participates in the Krebs cycle in mitochondria, as well as in regulation of cytosolic fumarate levels. Fumarate hydratase deficiency is an autosomal recessive trait presenting as metabolic disorder with severe encephalopathy, seizures and poor neurological outcome. Heterozygous mutations are associated ...[more]