Open AccessInvestigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.
Author(s) -
Dominika Bal,
Anna KraskaDziadecka,
Wanda Gradowska,
Adam GryffKeller
Publication year - 2008
Publication title -
acta biochimica polonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.452
H-Index - 78
eISSN - 1734-154X
pISSN - 0001-527X
DOI - 10.18388/abp.2008_3103
Subject(s) - nuclear magnetic resonance spectroscopy , spectroscopy , nuclear magnetic resonance , chemistry , urine , chemical shift , proton nmr , high resolution , nmr spectra database , metabolomics , spectral line , spectrometer , analytical chemistry (journal) , resolution (logic) , carbon 13 nmr , chromatography , biochemistry , physics , computer science , optics , remote sensing , quantum mechanics , astronomy , artificial intelligence , geology
High-resolution H-1 NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas C-13 NMR remains almost unexploited. In this paper the application of 13 C NMR spectroscopy of fivefold concentrated urine samples for diagnosis of selected metabolic diseases is reported. Various marker 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 C-13 NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to H-1 NMR or any other analytical method.
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