BCKDHB-related maple syrup urine disease

(MSUD type 1b)

Synonym(s)
- Branched-chain ketoacid dehydrogenase E1 beta deficiency
Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- BCKDHB / Branched Chain Ketoacid Dehydrogenase E1 Subunit Beta
  6q14.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Branched-chain α-keto acid dehydrogenase subunit beta, mitochondrial
Multimer
- Branched-chain 2-oxoacid dehydrogenase complex
Pathway
- Branched-chain amino acid metabolism
Parent entry
- Maple syrup urine disease