MOLYBDENUM COFACTOR DEFICIENCY

被引：28

作者：

ARNOLD, GL

GREENE, CL

STOUT, JP

GOODMAN, SI

机构：

[1] ARKANSAS CHILDRENS HOSP, LITTLE ROCK, AR 72202 USA

[2] UNIV COLORADO, HLTH SCI CTR, DEPT PEDIAT, DENVER, CO 80262 USA

[3] CHILDRENS HOSP, DENVER, CO 80218 USA

[4] MEM HOSP, DEPT PATHOL & LAB MED, COLORADO SPRINGS, CO USA

来源：

JOURNAL OF PEDIATRICS | 1993年 / 123卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(05)80961-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion exchange chromatography). This disorder should be considered in the differential diagnosis of neonatal seizures.

引用

收藏

页码：595 / 598

页数：4

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