N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism

U. F H Engelke, M. L F Liebrand-van Sambeek, J. G N De Jong, Jules G. Leroy, Eva Morava-Kozicz, J. A M Smeitink, Ron A. Wevers

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Abstract

Background: There is no comprehensive analytical technique to analyze N-acetylated metabolites in urine. Many of these compounds are involved in inborn errors of metabolism. In the present study, we examined the potential of proton nuclear magnetic resonance (1H-NMR) spectroscopy as a tool to identify and quantify N-acetylated metabolites in urine of patients with various inborn errors of metabolism. Methods: We performed 1H-NMR spectroscopy on a 500 MHz spectrometer. Using a combination of one- and two-dimensional correlation spectroscopy (COSY) 1H-NMR spectra, we were able to assign and quantify resonances of characteristic N-acetylated compounds products in urine of patients with 13 inborn errors of metabolism. Results: The disease-specific N-acetylated metabolites were excreted at concentrations >100 μmol/mmol of creatinine in the patients' urine. In control urine samples, the concentration of individual N-acetyl-containing compounds was <40 μmol/mmol of creatinine. The combination of one- and two-dimensional COSY NMR spectroscopy led to the correct diagnosis of nine different inborn errors of metabolism. No abnormalities were observed in the spectra of urine from patients with GM1-or GM2- gangliosidosis. We also determined the 1H-NMR characteristics of N-acetylated metabolites that may be relevant to human metabolism. Conclusion: 1H-NMR spectroscopy may be used to identify and quantify N-acetylated metabolites of diagnostic importance for the field of inborn errors of metabolism.

Original languageEnglish (US)
Pages (from-to)58-66
Number of pages9
JournalClinical Chemistry
Volume50
Issue number1
DOIs
StatePublished - Jan 1 2004
Externally publishedYes

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ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Engelke, U. F. H., Liebrand-van Sambeek, M. L. F., De Jong, J. G. N., Leroy, J. G., Morava-Kozicz, E., Smeitink, J. A. M., & Wevers, R. A. (2004). N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism. Clinical Chemistry, 50(1), 58-66. https://doi.org/10.1373/clinchem.2003.020214