Term Name:	maple syrup urine disease type IB
Synonyms:
Definition:	A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14.
Ontology:	Human Disease [DOID:0061206]   ( DOID:0061206 )