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Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation
A Fiumara1, A B P van Kuilenburg, U Caruso
1Center for Inborn Errors of Metabolism, Department of Paediatrics, University of Catania, Catania, Italy. afiumara@katamail.com
Journal of Inherited Metabolic Disease
|September 16, 2003
Abstract:
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.