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