DBT-related maple syrup urine disease

(MSUD type 2)

Synonym(s)
- Dihydrolipoyl transacylase deficiency,
- Branched-chain ketoacid dehydrogenase E2 deficiency
Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- DBT / Dihydrolipoamide Branched Chain Transacylase
  1p21.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Dihydrolipoamide branched chain transacylase
Multimer
- Branched-chain 2-oxoacid dehydrogenase complex
Pathway
- Branched-chain amino acid metabolism
Parent entry
- Maple syrup urine disease