Approach to inborn errors of metabolism presenting in the neonate

被引：0

作者：

Suvasini Sharma

Pradeep Kumar

Ramesh Agarwal

Madhulika Kabra

Ashok K. Deorari

Vinod K. Paul

机构：

[1] All India Institute of Medical Sciences,Department of Pediatrics

来源：

The Indian Journal of Pediatrics | 2008年 / 75卷

关键词：

Inborn errors of metabolism; Encephalopathy; Hyperammonemia;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns. Presentation may mimic common neonatal conditions such as sepsis. Prompt detection requires a high index of suspicion and the early measurement of biochemical markers such as blood ammonia. Diagnosis is important not only for treatment but also for genetic counselling. Guidelines for diagnosis and early management of IEM presenting in the neonatal period are described.

引用

页码：271 / 276

页数：5

共 20 条

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