dihydropyrimidinase deficiency

Term ID

DOID:0111629

Synonyms

• dihydropyrimidinuria
• DPH deficiency
• DPYS deficiency
• DPYSD

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. (2)

References

• GARD:12347
• MESH:C562815
• OMIM:222748
• ORDO:38874
• SNOMEDCT_US_2023_03_01:238014002
• UMLS_CUI:C0342803

Ontology

Human Disease   ( DOID:0111629 )