Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

被引：6

作者：

Fiumara, A

van Kuilenburg, ABP

Caruso, U

Nucifora, C

Marzullo, E

Barone, R

Meli, C

van Gennip, AH

机构：

[1] Univ Catania, Dept Paediat, Ctr Inborn Errors Metab, I-95123 Catania, Italy

[2] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands

[3] Lab Ist Gaslini, Genoa, Italy

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 04期

关键词：

D O I：

10.1023/A:1025123622821

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：407 / 409

页数：3

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