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GTR Home > Conditions/Phenotypes > Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency

Synonyms
DPD deficiency; DPYD DEFICIENCY; Hereditary Thymine-Uraciluria; Pyrimidinemia familial

Summary

Dihyropyrimidine dehydrogenase deficiency (DPYDD) shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999). Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004). [from OMIM]

Available tests

70 tests are in the database for this condition.

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Clinical tests (70 available)

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  • Also known as: DHP, DHPDHASE, DPD, DYPD, DPYD
    Summary: dihydropyrimidine dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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