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

Abstract

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.

1H and 13C NMR study of 2‐hydroxyglutaric acid and its lactone

“…Two hitherto proposed assignments of the 1 H NMR spectra of 1 in water solutions are divergent and apparently erroneous. 7,8 We have found that a possible source of those misassignments is the fact that in strongly acidic aqueous solutions 1 partially undergoes a lactonization reaction to give 5-oxotetrahydrofuran-2-carboxylic acid (2) (Fig. 1).…”

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine

“…Many reports on this topic have been published (1)(2)(3)(4)(5). Several inborn errors in the pyrimidine metabolism are known.…”

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

“…1 H NMR spectroscopy of body fluids has been used in the diagnosis of many inborn errors of metabolism (Lehnert and Hunkler 1986;Iles and Chalmers 1988). To our knowledge there is no systematic study available of body fluids from patients with inborn errors in the purine or pyrimidine metabolism.…”