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Dihydropyrimidine dehydrogenase deficiency is an autosomal recessivemetabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. Individuals with this condition may develop life-threatening toxicity following exposure to 5-fluorouracil (5-FU), a chemotherapy drug that is used in the treatment of cancer. Beside 5-FU, widely prescribed oral fluoropyrimidine capecitabine (Xeloda) could put DPD-deficient patients at risk of experiencing severe or lethal toxicities as well.

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rdf:type
rdfs:label
  • Dihydropyrimidine dehydrogenase deficiency (en)
  • Déficit en dihydropyrimidine déshydrogénase (fr)
rdfs:comment
  • Dihydropyrimidine dehydrogenase deficiency is an autosomal recessivemetabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. Individuals with this condition may develop life-threatening toxicity following exposure to 5-fluorouracil (5-FU), a chemotherapy drug that is used in the treatment of cancer. Beside 5-FU, widely prescribed oral fluoropyrimidine capecitabine (Xeloda) could put DPD-deficient patients at risk of experiencing severe or lethal toxicities as well. (en)
  • Le déficit en dihydropyrimidine déshydrogénase (déficit en DPD) ou pyrimidinémie familiale est une maladie métabolique héréditaire autosomique récessive, caractérisée par l'absence ou la réduction importante de l'activité enzymatique de la , enzyme impliquée dans le métabolisme de l'uracile et de la thymine. Les individus porteurs du déficit peuvent développer une toxicité potentiellement létale lors d'une exposition au 5-fluorouracil (5-FU) ou à son promédicament le capécitabine, tous les deux utilisés comme chimiothérapie anticancéreuse. (fr)
foaf:name
  • Dihydropyrimidine dehydrogenase deficiency (en)
name
  • Dihydropyrimidine dehydrogenase deficiency (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg
dcterms:subject
Wikipage page ID
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Link from a Wikipage to another Wikipage
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dbp:wikiPageUsesTemplate
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DiseasesDB
MeshID
  • D054067 (en)
OMIM
Orphanet
caption
  • Dihydropyrimidine dehydrogenase deficiency has an autosomal recessive pattern of inheritance. (en)
synonyms
  • DPD deficiency (en)
has abstract
  • Dihydropyrimidine dehydrogenase deficiency is an autosomal recessivemetabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. Individuals with this condition may develop life-threatening toxicity following exposure to 5-fluorouracil (5-FU), a chemotherapy drug that is used in the treatment of cancer. Beside 5-FU, widely prescribed oral fluoropyrimidine capecitabine (Xeloda) could put DPD-deficient patients at risk of experiencing severe or lethal toxicities as well. (en)
  • Le déficit en dihydropyrimidine déshydrogénase (déficit en DPD) ou pyrimidinémie familiale est une maladie métabolique héréditaire autosomique récessive, caractérisée par l'absence ou la réduction importante de l'activité enzymatique de la , enzyme impliquée dans le métabolisme de l'uracile et de la thymine. Les individus porteurs du déficit peuvent développer une toxicité potentiellement létale lors d'une exposition au 5-fluorouracil (5-FU) ou à son promédicament le capécitabine, tous les deux utilisés comme chimiothérapie anticancéreuse. (fr)
gold:hypernym
dbp:wordnet_type
MeSH ID
  • D054067
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page length (characters) of wiki page
DiseasesDB
  • 29817
OMIM id
ORPHA
  • 1675
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