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
收藏
页码：752 / 754
页数：3
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