2-Methylbutyryl-CoA dehydrogenase deficiency

(ACADSB deficiency)

Synonym(s)
- Short/branched-chain acyl-CoA dehydrogenase deficiency,
- 2-methylbutyrylglycinuria
Type

Disease
External link(s)
Gene
- ACADSB / Acyl-CoA Dehydrogenase Short/Branched Chain
  10q26.13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acyl-CoA dehydrogenase, short/branched chain
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias