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首页> 外文期刊>International Journal of Neonatal Screening >A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry
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A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

机译：液相色谱-串联质谱快速筛查新生儿干血斑中总同型半胱氨酸的方法

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Homocystinuria (HCU) due to cystathionine-???2-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely on the detection of an elevated methionine level or a rapid screen for total homocysteine (tHCY). However, screening based on methionine levels alone lacks specificity and rapid liquid chromatography tandem mass spectrometry (LC-MS/MS) methods for tHCY exhibit variable results with high false positive rates. This report describes a LC-MS/MS method for detection of tHCY on DBS, with improved specificity. tHCY was extracted from DBS with a solution containing dithiothreitol and subsequently butylated with hydrochloric acid in n -butanol. The butyl esters were separated by liquid chromatography on a reverse-phase column and the homocysteine (HCY), detected by tandem mass spectrometry. The butyl ester of HCY eluted at 1.8 min. Total analysis time was 6.1 min per sample, including column flush and equilibration. This method allows for the quantification of tHCY over a linear range from 0.3 to 200 ???μM. Intraassay and interassay imprecision and recoveries were acceptable. Good concordance was observed with another LC-MS/MS method. Application of this method improves specificity and reduces false positive rates in screening for HCU.
机译：由于胱硫醚-β2-合酶缺乏症引起的高半胱氨酸尿症（HCU）通常被认为是一种罕见疾病，但在卡塔尔人群中，每1800例活产中有1例发病。大多数使用干血斑（DBS）的HCU新生儿筛查方法都依赖于检测甲硫氨酸水平升高或总同型半胱氨酸（tHCY）的快速筛查。但是，仅基于蛋氨酸水平的筛查缺乏特异性，并且快速液相色谱串联质谱法（LC-MS / MS）的tHCY方法显示出可变的结果和较高的假阳性率。本报告介绍了一种LC-MS / MS方法，用于在DBS上检测tHCY，具有更高的特异性。用含有二硫苏糖醇的溶液从DBS中提取tHCY，然后用盐酸的正丁醇丁酯化。通过液相色谱在反相柱上分离丁酸酯，并通过串联质谱法检测高半胱氨酸（HCY）。 HCY的丁酯在1.8分钟时洗脱。每个样品的总分析时间为6.1分钟，包括色谱柱冲洗和平衡。这种方法允许在0.3到200μM的线性范围内定量tHCY。批内和批间不精确度和回收率均可接受。使用另一种LC-MS / MS方法观察到良好的一致性。该方法的应用提高了特异性，并降低了HCU筛查的假阳性率。

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