Dihydropyrimidine dehydrogenase deficiency

Definition:

Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil.

References:

[1]. Radhia Ben Fredj, et al. Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population. C R Biol. 2007 Oct;330(10):764-9. [Content Brief]

[2]. Yoshihiro Okamoto, et al. SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit. Biochem Genet. 2007 Oct;45(9-10):713-24. [Content Brief]

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