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dihydropyrimidine dehydrogenase deficiency
Summary
- Synonym
-
- Dihydrouracil Dehydrogenase deficiency
- familial pyrimidinaemia
- thymine-uracilurea
- Definition
- A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
- Super Class
- purine-pyrimidine metabolic disorder
External Links
- Disease Ontology
- DOID:14218
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
