Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases.

Adam Gryff-Keller; Anna Kraska-Dziadecka; Dominika Kubica

doi:10.18388/abp.2012_2100

Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases.

Adam Gryff-Keller Faculty of Chemistry, Warsaw University of Technology, Warsaw, Poland.;
Anna Kraska-Dziadecka
Dominika Kubica

DOI: https://doi.org/10.18388/abp.2012_2100

Abstract

A range of inborn metabolic diseases result in abnormal accumulation of acylglycines in body fluids. Therefore, detection of these metabolites is important for diagnostic purposes. (1)H and (13)C NMR spectroscopies have successfully been applied for both qualitative and quantitative determinations of various acylglycines in urine samples from patients suffering from metabolic diseases connected with excretion of these compounds. Various acylglycines were identified in test urine samples from 15 patients suffering from five different metabolic diseases, providing information which could be crucial for their diagnoses. The paper reports complete (1)H and (13)C NMR data of 11 acylglycines, which is essential for this type of NMR analysis of body fluids. NMR spectroscopy has been proven effective in determining the presence as well as the levels of acylglycines in urine. The proposed method is rapid, simple and requires minimal sample treatment.

Published

2012-11-06

Issue

Vol. 59 No. 4 (2012)

Section

Articles

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