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

• Authors: Dominika Bal , Anna Kraska-Dziadecka , Wanda Gradowska , Adam Gryff-Keller
• Languages of publication: EN

Abstracts

EN

High-resolution 1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas 13C NMR remains almost unexploited. In this paper the application of 13C 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 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.

Keywords

EN

urine; 13C NMR; inherited metabolic disease; 1H NMR; marker metabolite

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2008
• Volume: 55
• Issue: 1
• Pages: 107-118

Dates

published

2008

received

2007-08-29

revised

2007-11-30

accepted

2007-12-27

(unknown)

2008-01-23

Contributors

author

Dominika Bal

• Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland

author

Anna Kraska-Dziadecka

• Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland

author

Wanda Gradowska

• The Children's Memorial Health Institute in Warsaw, Warszawa, Poland

author

Adam Gryff-Keller

• Faculty of Chemistry, Warsaw University of Technology, Warszawa, Poland

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