POSSIBILITIES OF SELECTIVE SCREENING FOR INBORN-ERRORS OF METABOLISM USING HIGH-RESOLUTION H-1-FT-NMR SPECTROMETRY
POSSIBILITIES OF SELECTIVE SCREENING FOR INBORN-ERRORS OF METABOLISM USING HIGH-RESOLUTION H-1-FT-NMR SPECTROMETRY
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DOI：
10.1007/bf00439397
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发表时间：
1986-09-01
影响因子：
3.6
通讯作者：
HUNKLER, D
中科院分区：
文献类型：
--
作者：
LEHNERT, W;HUNKLER, D
核磁共振光谱法迄今为止是有机化学中阐明化合物结构的有力工具，近年来得到了改进，成为一种适用于生理介质中正常和异常代谢物检测的方法。我们使用250 MHz FT-NMR波谱仪调查了已知患有不同遗传性代谢紊乱的患者的本地尿液标本，并能够确认每个病例的诊断。各种适当的代谢物的化学位移值，在pH 2.5运行，在这里提出。结论是，如果采用最佳规格的高场仪器，核磁共振光谱法是筛选先天性代谢错误的一种很好的方法。
NMR spectrometry, hitherto a powerful tool in organic chemistry for elucidating the structures of chemical compounds, has been improved during recent years to become a method suitable for detection of normal and abnormal metabolites in physiologic media. We have investigated native urinary specimens from patients known to suffer from different inherited metabolic disorders using a 250 MHz FT-NMR spectrometer and were able to confirm the diagnosis in every case. Chemical shift values of a variety of appropriate metabolites, run at pH 2.5, were presented here. It is concluded, that NMR spectrometry is an excellent method with which to screen to inborn errors of metabolism provided that high-field instruments with the best available specifications are applied.