Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry.

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, are presented here. It is concluded, that NMR spectrometry is an excellent method with which to screen for inborn errors of metabolism provided that high-field instruments with the best available specifications are applied.