dihydropyrimidine dehydrogenase deficiency (DOID:14218)
Alliance: disease page
Synonyms: Dihydrouracil Dehydrogenase deficiency; familial pyrimidinaemia; thymine-uracilurea
Alt IDs: OMIM:274270, MESH:D054067, NCI:C84672, UMLS_CUI:C1959620, UMLS_CUI:C3495551
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.