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Metadata
ID	DOID:0061203
Name	maple syrup urine disease type IA
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. https://pubmed.ncbi.nlm.nih.gov/7182976/
Xrefs	MIM:248600
Parent Relationships	is_a maple syrup urine disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance