Term Name:	dihydrolipoamide dehydrogenase deficiency
Synonyms:
Definition:	A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.
Ontology:	Human Disease [DOID:0061204]   ( DOID:0061204 )