dihydrolipoamide dehydrogenase deficiency

A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_materi

A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.

Signs and symptoms

• Ketoacidosis
• Dystonia
• Increased circulating pyruvate concentration
• Hypotonia
• Increased CSF leucine concentration
• Increased CSF isoleucine concentration
• Elevated circulating hepatic transaminase concentration
• Increased CSF valine concentration
• Global developmental delay
• Encephalopathy