dihydropyrimidinase deficiency (DOID:0111629)
Alliance: disease page
Synonyms: dihydropyrimidinuria; DPH deficiency; DPYS deficiency; DPYSD
Alt IDs: OMIM:222748, MESH:C562815, ORDO:38874, UMLS_CUI:C0342803
Definition: A pyrimidine metabolic disorder characterized by a defect in the degredation 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.