Laboratory investigations of cerebrospinal fluid (CSF) are essential when suspecting an inborn error of metabolism (IEM) involving neurological features. Available tests are currently performed on different analytical platforms, requiring a large sample volume and long turnaround time, which often delays timely diagnosis. Therefore, it would be preferable to have an “one‐instrument” targeted multi‐metabolite approach.

中文翻译：

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在 LC-MS/MS 分析平台上针对先天性代谢错误进行靶向脑脊液分析。

当怀疑涉及神经系统特征的先天性代谢缺陷 (IEM) 时，脑脊液 (CSF) 的实验室检查是必不可少的。目前可用的测试在不同的分析平台上进行，需要大量的样本和较长的周转时间，这往往会延误及时诊断。因此，最好采用“单一仪器”靶向多代谢物方法。