CAJ | 학술논문

目的：总结以发育落后为主要表现、疑有遗传性代谢病患儿的血液筛查结果。方法2010年3月~2013年10月采用串联质谱检查技术检测滤纸片中酰基肉碱和氨基酸等小分子代谢物含量，对相关疾病进行筛查。结果共筛查97例患儿，其中阳性3例(3.09%)，可疑阳性55例(56.7%)。结论串联质谱检查是筛查发育落后患儿病因的一种有效措施。
목적：총결이발육락후위주요표현、의유유전성대사병환인적혈액사사결과。방법2010년3월~2013년10월채용천련질보검사기술검측려지편중선기육감화안기산등소분자대사물함량，대상관질병진행사사。결과공사사97례환인，기중양성3례(3.09%)，가의양성55례(56.7%)。결론천련질보검사시사사발육락후환인병인적일충유효조시。
Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarni-tine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.