VARIABILITY OF CLINICAL PRESENTATION IN FUMARATE HYDRATASE DEFICIENCY

被引：16

作者：

ELPELEG, ON

AMIR, N

CHRISTENSEN, E

机构：

[1] SHAARE ZEDEK MED CTR, NEUROPEDIAT UNIT, IL-91000 JERUSALEM, ISRAEL

[2] RIGSHOSP, METAB LAB, DK-2100 COPENHAGEN, DENMARK

来源：

JOURNAL OF PEDIATRICS | 1992年 / 121卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(05)81910-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.

引用

页码：752 / 754

页数：3

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