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dihydropyrimidinase deficiency
Summary
- Synonym
-
- DPH deficiency
- DPYS deficiency
- DPYSD
- dihydropyrimidinuria
- 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.
- Super Class
- autosomal recessive disease pyrimidine metabolic disorder
External Links
- Disease Ontology
- DOID:0111629
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
