Isobutyryl-CoA dehydrogenase deficiency

(ACAD8 deficiency)

Type

Disease
External link(s)
Gene
- ACAD8 / Acyl-CoA Dehydrogenase Family Member 8
  11q25
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acyl-CoA dehydrogenase, very long-chain, mitochondrial
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias