maple syrup urine disease type II

A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.

Signs and symptoms

• Lethargy
• Opisthotonus
• Ketoacidosis