ECHS1 deficiency

(ECHS1 deficiency)

Synonym(s)
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,
- Crotonase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ECHS1 / Enoyl-CoA Hydratase 1
  10q26.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Enoyl-CoA hydratase 1, mitochondrial
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias