Term Name:	maple syrup urine disease type IA
Synonyms:
Definition:	A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13.
Ontology:	Human Disease [DOID:0061203]   ( DOID:0061203 )