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一种用于分析新生儿筛查干血斑中未衍生氨基酸的 MS/MS 简单方法。

A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening.

机构信息

Chang Chun Institute of Applied Chemistry, Chinese Academy of Sciences, Changchun, 130022, People's Republic of China.

出版信息

Amino Acids. 2012 May;42(5):1889-95. doi: 10.1007/s00726-011-0910-6. Epub 2011 Apr 21.

DOI:10.1007/s00726-011-0910-6
PMID:21509487
Abstract

The analysis by electrospray-ionization tandem mass spectrometry of amino acids with butyl esterification and isotopically labeled internal standard is routine in newborn screening laboratories worldwide. In the present study, we established a direct analysis method of higher accuracy that uses a non-deuterated internal standard. The automatic sampler and the pump of an LC apparatus were used to inject sample and mobile phase to MS, but no LC column was needed. The dry blood spot (DBS) material was prepared at levels of low, medium and high concentration; the running time was 1 min. In parallel to the new procedure, we applied the established method to analyze nine amino acids on DBS of healthy newborns and phenylketonuria newborns. The newly proposed method of product ion confirmation scan along with multiple reaction monitoring resulted in a very accurate identification of each amino acid. Our innovative protocol had high sensitivity and specificity in the analysis of cases of suspected metabolic diseases.

摘要

电喷雾串联质谱法对丁酯化和同位素标记内标氨基酸的分析已成为世界范围内新生儿筛查实验室的常规方法。在本研究中,我们建立了一种直接分析方法,该方法具有更高的准确性,且使用非氘标记的内标。LC 仪器的自动进样器和泵用于将样品和流动相注入 MS,而无需 LC 柱。在低、中、高浓度水平下制备干血斑 (DBS) 材料;运行时间为 1 分钟。在与新程序平行的过程中,我们应用已建立的方法分析了健康新生儿和苯丙酮尿症新生儿的 DBS 中的九种氨基酸。新提出的产物离子确认扫描与多重反应监测相结合的方法,非常准确地鉴定了每种氨基酸。我们的创新方案在疑似代谢疾病病例的分析中具有高灵敏度和特异性。

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A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening.一种用于分析新生儿筛查干血斑中未衍生氨基酸的 MS/MS 简单方法。
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Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening.用于新生儿筛查代谢疾病中干血斑中未衍生氨基酸定量的二级检测。
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IDH1 deficiency attenuates gluconeogenesis in mouse liver by impairing amino acid utilization.异柠檬酸脱氢酶1(IDH1)缺乏通过损害氨基酸利用来减弱小鼠肝脏中的糖异生作用。
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