HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: clinchem.2003.020214v1 50/1/58    most recent Submit an electronic Letter to the Editor about this paper Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via ISI Web of Science (17) Citing Articles via Google Scholar Google Scholar Articles by Engelke, U. F.H. Articles by Wevers, R. A. Search for Related Content PubMed PubMed Citation Articles by Engelke, U. F.H. Articles by Wevers, R. A. Related Collections Molecular Diagnostics and Genetics

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

University Medical Center Nijmegen,¹ Laboratory of Pediatrics and Neurology and ² Department of Pediatrics, NL-6500 HB Nijmegen, The Netherlands.
³ Ghent University School of Medicine, Departments of Pediatrics and Medical Genetics, Ghent, Belgium.

^aAddress correspondence to this author at: University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology (319), Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands. Fax 31-24-3540297; e-mail r.wevers{at}cukz.umcn.nl.

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 G_M1- or G_M2-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.

The following articles in journals at HighWire Press have cited this article:

				N. Shanaiah, M. A. Desilva, G. A. Nagana Gowda, M. A. Raftery, B. E. Hainline, and D. Raftery Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR PNAS, July 10, 2007; 104(28): 11540 - 11544. [Abstract] [Full Text] [PDF]

				J. Hunt If It Smells Like a Duck, It Might Be an Asthma Subphenotype Am. J. Respir. Crit. Care Med., May 15, 2007; 175(10): 975 - 976. [Full Text] [PDF]

				M. Oostendorp, U. F.H. Engelke, M. A.A.P. Willemsen, and R. A. Wevers Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy Clin. Chem., July 1, 2006; 52(7): 1395 - 1405. [Abstract] [Full Text] [PDF]