质谱分析在遗传代谢性疾病临床检验诊断中的应用

doi:10.3969/j.issn.1673-8640.2015.05.002

摘要/Abstract

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。

关键词: 质谱, 代谢性疾病, 气相色谱质谱联用, 串联质谱

Abstract:

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.

Key words: Mass spectrometry, Inborn error of metabolism, Gas chromatography/mass spectrometry, Tandem mass spectrometry

中图分类号:

R446.1

张春花. 质谱分析在遗传代谢性疾病临床检验诊断中的应用[J]. 检验医学, 2015, 30(5): 410-415.

ZHANG Chunhua. Application of mass spectrometry for the clinical diagnosis of inborn error of metabolism[J]. Laboratory Medicine, 2015, 30(5): 410-415.

图/表 3

参考文献 15

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方法	检测成分	对应代谢病
有机溶媒提取法	有机酸	甲基丙二酸血症、丙酸血症、枫糖尿症、异戊二酸血症、戊二酸血症Ⅰ/Ⅱ型等
尿素酶处理法	有机酸	甲基丙二酸血症、丙酸血症、枫糖尿症、异戊二酸血症、戊二酸血症Ⅰ/Ⅱ型等
	氨基酸	尿素循环异常疾病、苯丙酮尿症、肌氨酸血症、高脯氨酸血症、赖氨酸不耐症、Citrin缺陷病等
	糖类	半乳糖血症、果糖1,6-二磷酸酶缺乏症等
	核酸类	Lysch-Nyhan综合征、黄嘌呤尿症、尿嘧啶胸腺嘧啶尿症等
	神经介质	神经母细胞瘤、卡拿弯病、4羟基丁酸尿症等

方法	检测成分	对应代谢病
有机溶媒提取法	有机酸	甲基丙二酸血症、丙酸血症、枫糖尿症、异戊二酸血症、戊二酸血症Ⅰ/Ⅱ型等
尿素酶处理法	有机酸	甲基丙二酸血症、丙酸血症、枫糖尿症、异戊二酸血症、戊二酸血症Ⅰ/Ⅱ型等
	氨基酸	尿素循环异常疾病、苯丙酮尿症、肌氨酸血症、高脯氨酸血症、赖氨酸不耐症、Citrin缺陷病等
	糖类	半乳糖血症、果糖1,6-二磷酸酶缺乏症等
	核酸类	Lysch-Nyhan综合征、黄嘌呤尿症、尿嘧啶胸腺嘧啶尿症等
	神经介质	神经母细胞瘤、卡拿弯病、4羟基丁酸尿症等

方法	生产厂商	仪器型号	用途
LC-MS/MS	AB SCIEX	API4000	血氨基酸、酰基肉碱分析
	Water	Waters TQD系列	血氨基酸、脂酰肉碱分析
	SHIMDZU	SHIMDZU LC-MS8040	血氨基酸、脂酰肉碱分析
GC/MS	Agilent	Agilent 6890A系列	尿代谢谱分析
	JEOL	JMS-Q1050GC	尿代谢谱分析
	SHIMDZU	GCMS-QP2010 Ultra	尿代谢谱分析

方法	生产厂商	仪器型号	用途
LC-MS/MS	AB SCIEX	API4000	血氨基酸、酰基肉碱分析
	Water	Waters TQD系列	血氨基酸、脂酰肉碱分析
	SHIMDZU	SHIMDZU LC-MS8040	血氨基酸、脂酰肉碱分析
GC/MS	Agilent	Agilent 6890A系列	尿代谢谱分析
	JEOL	JMS-Q1050GC	尿代谢谱分析
	SHIMDZU	GCMS-QP2010 Ultra	尿代谢谱分析