InterPro domain: IPR032259

The enoyl-CoA hydratase/isomerase family contains a diverse set of enzymes including: enoyl-CoA hydratase, napthoate synthase, carnitate racemase, 3-hydroxybutyryl-CoA dehydratase and dodecanoyl-CoA delta-isomerase. This entry represents a subset of the enoyl-CoA hydratase/isomerase family. Proteins in this entry includes 3-hydroxyisobutyryl-CoA hydrolases (HIBYL-CoA-H) from eukaryotes and their homologues from bacteria.

Human HIBYL-CoA-H is a mitochondrial enzyme that catalyses the fifth step in the valine catabolic pathway in eukaryotes, namely the conversion of 3-hydroxyisobutyryl-CoA to free 3-hydroxyisobutyrate [ 1 , 2 ]. It also hydrolyses 3-hydroxypropionyl-CoA, giving it a dual role in a secondary pathway of propionate metabolism [ 3 ]. Deficiency of this enzyme is associated with Leigh-like disease [ 4 , 5 ].

1. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. J. Biol. Chem. 271, 26430-4
2. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. J. Inherit. Metab. Dis. 35, 5-12
3. Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. Mol. Genet. Metab. 115, 168-73
4. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain 137, 2903-8
5. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis 8, 188