BCKDHA-related maple syrup urine disease

(MSUD type 1a)

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

Disease
External link(s)
- IEMbase
- VMH
Gene
- BCKDHA / Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha
  19q13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Branched-chain alpha-keto acid dehydrogenase subunit, mitochondrial
Multimer
- Branched-chain 2-oxoacid dehydrogenase complex
Pathway
- Branched-chain amino acid metabolism
Parent entry
- Maple syrup urine disease