1.01.c

Disorders of branched-chain amino acid metabolism

  • Branched-chain aminotransferase 2 deficiency (Hypervalinemia and hyperleucine- isoleucinemia)
  • Branched-chain ketoacid dehydrogenase E1 alpha deficiency (Maple syrup urine disease type 1a)
  • Branched-chain ketoacid dehydrogenase E1 beta deficiency (Maple syrup urine disease type 1b)
  • Dihydrolipoyl transacylase deficiency (Maple syrup urine disease type 2; branched-chain ketoacid dehydrogenase E2 deficiency)
  • Branched-chain ketoacid dehydrogenase kinase deficiency
  • Branched-chain ketoacid dehydrogenase phosphatase deficiency

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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