dihydropyrimidinase deficiency

A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the

A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3.

Signs and symptoms

• Reduced dihydropyrimidine dehydrogenase level
• Elevated circulating creatine kinase activity
• Elevated CSF dihydrouracil concentration
• Elevated urinary dihydrouracil level
• Elevated circulating thymine concentration
• Elevated circulating aldolase concentration
• Uraciluria
• Elevated urinary dihydrothymine level
• Elevated circulating alanine aminotransferase concentration
• Hyperactivity

Also known as: DPH deficiency; DPYS deficiency; DPYSD; dihydropyrimidinuria