title: Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.
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.
authors.affiliation: Center for Inborn Errors of Metabolism, Department of Paediatrics, University of Catania, Catania, Italy. afiumara@katamail.com
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: U
authors.initials: U
authors.lastname: Caruso
authors.forename: C
authors.initials: C
authors.lastname: Nucifora
authors.forename: E
authors.initials: E
authors.lastname: Marzullo
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: C
authors.initials: C
authors.lastname: Meli
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000208:Acute Disease; D054067:Dihydropyrimidine Dehydrogenase Deficiency; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000378:metabolism*; D004660:Encephalitis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000503:physiopathology; D011782:Quadriplegia / Q000209:etiology*; D012021:Reflex, Abnormal
chemical_list: D042943:Dihydrouracil Dehydrogenase (NADP)