遗传代谢病是因患者体内决定某种酶的基因异常,使该酶先天性缺失或缺陷所致的一类疾病。遗传代谢病范围广、种类多,检查方法复杂且特异性强,其检查、诊断常需在检查诊断中心进行。1 新生儿时期遗传代谢病的筛查这是在临床症状出现之前,为了早期发现、早期治疗,从新生儿中筛查患者的方法。其 Genetic metabolic disease is due to the patient’s body to determine the genetic abnormalities of certain enzymes, so that the enzyme congenital defects or defects caused by a class of diseases. A wide range of genetic metabolic diseases, many types, complex and specific inspection methods, the specificity of its inspection, diagnosis often need to check the diagnostic center. 1 Neonatal genetic metabolic disease screening This is the clinical symptoms before the emergence of early detection, early treatment, screening of patients from neonates. its