Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

High-resolution 1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases is reported. Various markers metabolites were identified in test urine samples from 33 patients suffering from 10 different diseases, providing information which could be crucial for their diagnoses. Spectra were accumulated for 2 h or overnight when using spectrometers operating at 9.4 or 4.7 T magnetic fields, respectively. Interpretation of the measurement results was based on a comparison of the peak positions in the measured spectrum with reference data. The paper contains a table with 13C NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to 1H NMR or any other analytical method. (author)