maple syrup urine disease type IA

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 o

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.

Signs and symptoms

• Increased level of hippuric acid in urine
• Lethargy
• Hypertonia
• Vomiting
• Seizure
• Positive 2,4-dinitrophenylhydrazine urine test
• Hypotonia
• Ataxia
• Generalized hypotonia
• Cerebral edema