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Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Fiumara, A; van Kuilenburg, A B P; Caruso, U; Nucifora, C; Marzullo, E; Barone, R; Meli, C; van Gennip, A H.

J Inherit Metab Dis ; 26(4): 407-9, 2003.

Article in English | MEDLINE | ID: mdl-12971429

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.

Subject(s)

Dihydropyrimidine Dehydrogenase Deficiency , Dihydrouracil Dehydrogenase (NADP)/metabolism , Encephalitis/etiology , Intellectual Disability/etiology , Purine-Pyrimidine Metabolism, Inborn Errors/complications , Quadriplegia/etiology , Acute Disease , Female , Humans , Infant , Purine-Pyrimidine Metabolism, Inborn Errors/physiopathology , Reflex, Abnormal

ABSTRACT

Subject(s)

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