遗传性代谢缺陷
- 网络Inborn error of metabolism
遗传性代谢缺陷-
目的：了解遗传性代谢缺陷疾病发病种类，评估其发病率，为我国新生儿筛查项目的扩展提供科学依据。
Objective : To provide a scientific foundation for newborn screening programs in China by evaluating the types and incidences of inherited metabolic diseases .
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其发病率很低（约1/50000），2岁以下儿童、遗传性代谢缺陷或神经系统发育异常、多药治疗时其危险性较高。
The incidence rate is very low ( about 1 / 50000 ), but its occurrence risk is high in such conditions as children under 2 years old , heritage metabolic defect or maldevelopment of nervous system and polypharmacy .