Human genes for dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency [DOID:0111629]
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.
Synonyms: dihydropyrimidinase deficiency, DOID:0111629, dihydropyrimidinase deficiencies, DPH deficiency, DPYS deficiency ...