Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 0: 200302021, 2003; 10.1373/clinchem.2003.020214
This Article
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
clinchem.2003.020214v1
50/1/58    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Engelke, U. F.H.
Right arrow Articles by Wevers, R. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Engelke, U. F.H.
Right arrow Articles by Wevers, R. A.

Received on April 15, 2003
Accepted on October 21, 2003

Molecular Diagnostics and Genetics

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

Udo F.H. Engelke 1, Maria L.F. Liebrand-van Sambeek 1, Jan G.N. de Jong 1, Jules G. Leroy 2, Éva Morava 3, Jan A.M. Smeitink 3, Ron A. Wevers 1*

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

* To whom correspondence should be addressed. 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$1- or G$1-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.© 2004 American Association for Clinical Chemistry


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


Home page
 BrainHome page
S. B. Wortmann, R. J. T. Rodenburg, A. Jonckheere, M. C. de Vries, M. Huizing, K. Heldt, L. P. van den Heuvel, U. Wendel, L. A. Kluijtmans, U. F. Engelke, et al.
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Brain, January 1, 2009; 132(1): 136 - 146.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
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]

Home page
 Am. J. Respir. Crit. Care Med.Home page
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]

Home page
 Clin. Chem.Home page
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]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2003 by the American Association for Clinical Chemistry.