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Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation
Author(s) -
Fiumara A.,
Kuilenburg A. B. P.,
Caruso U.,
Nucifora C.,
Marzullo E.,
Barone R.,
Meli C.,
Gennip A. H.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1025123622821
Subject(s) - dihydropyrimidine dehydrogenase , presentation (obstetrics) , medicine , girl , pediatrics , toxicity , dehydrogenase , fluorouracil , surgery , chemotherapy , enzyme , genetics , biology , biochemistry , thymidylate synthase
Dihydropyrimidine dehydrogenase (DPD) deficiency has been linked to 5‐fluorouracil toxicity, but patients may present a wide clinical spectrum. We describe a 1‐year‐old Tunisian girl with a dramatic onset of neurological symptoms suggesting the possible triggering role of environmental factors.