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Clinica Chimica Acta:采用液相色谱-串联质谱联用技术同时测定48种血浆氨基酸研究尿素循环紊乱

2019-09-22 gladiator MedSci原创

尿素循环障碍(UCD)是一种先天的氨解毒错误,早期诊断和治疗是预防代谢异常的关键。遗憾的是,诊断经常被延迟。为了提高诊断水平,我们建立了一种液相色谱-串联质谱联用方法来研究UCD对氨基酸谱的干扰。

尿素循环障碍(UCD)是一种先天的氨解毒错误,早期诊断和治疗是预防代谢异常的关键。遗憾的是,诊断经常被延迟。为了提高诊断水平,我们建立了一种液相色谱-串联质谱联用方法来研究UCD对氨基酸谱的干扰。

新方法可以实现)20 分钟完成48个氨基酸的绝对量化,并且只需要只有2.5 μL血浆样本。对于大多数AAs的下限为0.01 μmol / L。方法的准确度为89.9% ~ 113.4%。运行内、运行间变异系数分别为0.8-7.7%2.6-14.5%。该方法通过对正常对照组150份样本的分析,为42AAs建立了年龄特异性参考值,成功区分出不同亚型的UCD患者。患者资料显示,UCD不仅干扰尿素循环AAs的代谢,诱导氨排毒AAs的积累,还干扰pipecolic acidN-acetylaspartic acid等神经系统相关AAs的代谢。

这一数据可能为UCD的发病机制提供新的见解。

原始出处:

Min-Zhi PengYan-Na CaiSimultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders

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    2019-11-11 windight
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    2020-04-27 丁鹏鹏
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    2019-09-24 jeanqiuqiu
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