Pediatric Institute, Children's Hospital of Fudan University, Shanghai, China.
Clin Chim Acta. 2011 Jun 11;412(13-14):1270-4. doi: 10.1016/j.cca.2011.03.028. Epub 2011 Apr 2.
Analyses of amino acid/acylcarnitines in dried blood spots (DBS) and organic acids in urine are the primary tests for inborn errors of metabolism (IEMs). Automated tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) can rapidly and simultaneously detect numerous metabolic compounds with high precision and sensitivity.
Three thousand four hundred and twenty-nine DBSs and 2781 urine samples were collected from our hospital patients with suspected IEMs, and analyzed for amino acid/acylcarnitines and organic acids by MS/MS and GC/MS, respectively. The results were used in a coincidental survey to determine the efficacy of these methods for the diagnosis of IEMs.
Nineteen different types of IEMs were detected in 121 affected cases (1.95% of 6210 samples). There were 66.12% amino acid disorders, 29.75% organic acid disorders and 4.13% with fatty acid oxidation disorders.
the sick infants tested in this study had high prevalence rates of neonatal intrahepatic cholestasis, methylmalonic acidemia, hyperphenylalaninemia, tyrosinemia type I, and urea cycle disorders.
The combined use of MS/MS and GC/MS is an appropriate tool for screening of IEMs in sick infants.
分析氨基酸/酰基肉碱在干血斑（DBS）和有机酸在尿液中是代谢性疾病（IEMs）的主要检测方法。自动化串联质谱（MS/MS）和气相色谱/质谱（GC/MS）可以快速、同时检测多种代谢物，具有高精度和高灵敏度。
从我院疑似 IEMs 患者中收集了 3429 份 DBS 和 2781 份尿液样本，分别采用 MS/MS 和 GC/MS 检测氨基酸/酰基肉碱和有机酸。结果用于偶然调查，以确定这些方法对 IEMs 诊断的效果。
在 121 例受影响的病例（6210 份样本的 1.95%）中检测到 19 种不同类型的 IEM。其中 66.12%为氨基酸代谢紊乱，29.75%为有机酸代谢紊乱，4.13%为脂肪酸氧化代谢紊乱。
本研究检测的患病婴儿中，新生儿肝内胆汁淤积症、甲基丙二酸血症、高苯丙氨酸血症、酪氨酸血症 I 型和尿素循环障碍的发病率较高。
MS/MS 和 GC/MS 的联合使用是筛查患病婴儿 IEMs 的合适工具。
