摘要
遗传代谢病的诊断策略强调要重视急性代谢紊乱(低血糖、高血氨、酸中毒)、脑病、肝病及肌病、智力发育落后的表现及诱发因素,及时进行常规实验室检查、血氨基酸及酰基肉碱和尿有机酸分析等特异性检查,基因分析可帮助最终确定诊断。
Strategies used to diagnose inherited metabolicdiseases include focusing on precipitating factors and clinicalmanifestations of acute metabolic disorders（hypoglycemia,hyperammonemia,acidosis）,encephalopathy,myopathy andmental/developmental retardation. Common lab studies arealmost always needed;amino acid and organic acid studiesmust be performed for IEM diagnosis;genetic mutationanalysis is a powerful tool to get correct diagnosis of IEM.inherited metabolic diseasesIMDdiagnosis
出处
《中国实用儿科杂志》
CSCD
北大核心
2014年第8期565-569,共5页
Chinese Journal of Practical Pediatrics
关键词
遗传代谢病
诊断
策略
inherited metabolic diseases（IMD）
diagnosis
strategy
