KEGG   DISEASE: H00193Help
Entry
H00193                      Disease                                

Name
Dihydropyrimidine dehydrogenase deficiency
Description
Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Pyrimidine metabolism
Drug metabolism - other enzymes
Gene
DPYD; dihydropyrimidine dehydrogenase [HSA:1806] [KO:K00207]
Env factor
Fluorouracil [DR:D00584]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Ben Fredj R, Gross E, Chouchen L, B'Chir F, Ben Ahmed S, Neubauer S, Kiechle M, Saguem S
  Title
Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.
  Journal
C R Biol 330:764-9 (2007)
Reference
  Authors
Okamoto Y, Ueta A, Sumi S, Ito T, Okubo Y, Jose Y, Ninomiya A, Togari H, Nishida M
  Title
SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.
  Journal
Biochem Genet 45:713-24 (2007)

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