Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Universidad Nacional Autónoma de México, Mexico.
Curr Med Chem. 2012;19(26):4511-22. doi: 10.2174/092986712803251539.
Expanded newborn screening for inherited metabolic disorders using tandem mass spectrometry was introduced in 1990's and is widely used around the world. In contrast to conventional screening methods, tandem mass spectrometry does not measure single analytes but identifies and quantifies metabolite profiles; one single blood spot analyzed provides information of about 60 metabolites including amino acids, acylcarnitines and related ratios that enable the diagnosis of approximately 50 different diseases. However, the interpretation of these profiles can become quite complex. The aim of this work is to present in an easy and practical manner a comprehensive compilation of information needed for tandem mass neonatal screening profile interpretation, and basic actions for immediate follow up of abnormal results, including the tests that are required for confirmatory purposes. Other conditions not attributable to metabolic disorders which can lead to an abnormal profile of these markers are also described as well as a series of general recommendations which would be useful for health professionals who are beginning newborn screening for inborn errors of intermediary metabolism using tandem mass spectrometry.
自 20 世纪 90 年代以来，串联质谱法（tandem mass spectrometry）已被广泛应用于遗传性代谢疾病的新生儿筛查，其应用范围遍布全球。与传统的筛查方法不同，串联质谱法不是测量单个分析物，而是识别和定量分析代谢物谱；一个血斑样本可提供约 60 种代谢物的信息，包括氨基酸、酰基肉碱和相关比值，从而可以诊断大约 50 种不同的疾病。然而，这些谱图的解释可能会变得相当复杂。本工作的目的是以简单实用的方式，综合编译串联质谱新生儿筛查谱图解释所需的信息，以及对异常结果进行直接后续的基本操作，包括为明确诊断而进行的确认性检查。本工作还描述了不能归因于代谢紊乱的其他疾病，这些疾病可能导致这些标志物的异常谱图，以及一系列对于刚开始使用串联质谱法进行中间代谢障碍性遗传疾病新生儿筛查的医疗保健专业人员有用的一般建议。
