质谱分析在遗传代谢性疾病临床检验诊断中的应用

摘要

质谱分析技术已被公认为是代谢性疾病化学诊断的有用手段。气相色谱质谱联用法可以对130余种代谢疾病进行筛查和化学诊断，串联质谱法可同时筛查30余种脂肪酸代谢异常疾患和部分氨基酸代谢异常，因而被世界各国广泛用于新生儿先天性代谢疾病的筛查。应用质谱分析技术分析诊断遗传代谢疾病的实验室逐年递增，但其实验操作较为繁杂。临床实验室国际标准化管理是保证质谱分析技术为临床检验服务的前提。网络化实验室体系可以简化实验室的操作，保证良好的实验室管理。%For the clinical diagnosis of inborn error of metabolism, the technique of mass spectrometry is considered to be an important tool.Gas chromatography/mass spectrometry can be used in the screening and diagnosis of more than 130 inborn errors of metabolism.Tandem mass spectrometery can screen about 30 fatty acid disorders and amino acid disorders, so it is applied into neonatal screening around the world.The number of laboratories using mass spectrometry for the diagnosis of inborn error of metabolism is increasing, but the organization of mass spectrometry analysis is very difficult.Internationalization management is the precondition for the quality control of inborn error of metabolism determination in clinic.The on-line mass spectrometry network system can overcome difficult procedure and keep high quality for laboratory management.