3-hydroxyisobutyrate dehydrogenase deficiency

(HIBADH deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- HIBADH / Hydroxyisobutyryl-CoA hydrolase
  7p15.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxyisobutyryl-CoA hydrolase
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias