3-hydroxyisobutyryl-CoA hydrolase deficiency

(HIBCH deficiency)

Synonym(s)
- Beta-hydroxyisobutyryl-CoA deacylase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HIBCH / 3-hydroxyisobutyryl-CoA hydrolase
  2q32.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3-hydroxyisobutyryl-CoA hydrolase
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias