OnlineIMD
Maple syrup urine disease
(MSUD)
Synonym(s)
BCKDH complex deficiency, BCKDC deficiency
Type
Disease
External link(s)
Orphanet
Multimer
Branched-chain 2-oxoacid dehydrogenase complex
Pathway
Branched-chain amino acid metabolism
Disease group(s)
1.3 Disorders of branched-chain amino acid metabolism
Child entries
Maple syrup urine disease, classic
BCKDHA-related maple syrup urine disease
BCKDHB-related maple syrup urine disease
DBT-related maple syrup urine disease