Nuclear magnetic resonance analysis and genetic metabolic disease

Udo Engelke, Angelina Goudswaard, Ron A. Wevers, Eva Morava-Kozicz

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

An accurate number of metabolites that play a role in human metabolism is unknown. The Human Metabolome Database (HMDB) (1) contains more than 7,900 metabolites present in human body fluids (concentration >1 µmol/L) (see Chapter 1), and the knowledge base Kyoto Encyclopedia of Genes and Genomes (KEGG) (2) contains 16,288 small molecules, biopolymers, and other chemical substances that are relevant to biological systems. Approximately 3,000 genes and 1,000,000 proteins are involved in human cellular metabolism and homeostasis. Inborn errors of metabolism (IEM) comprise a large class of genetic diseases involving disorders of metabolism. More than 500 IEM are known at the present time (3). Data suggest that many IEM remain as yet unknown. The analytical techniques that are used in routine diagnostics seem to be insufficient to detect a higher percentage of the estimated theoretical number of IEM. These techniques always rely on the detection of groups of metabolic intermediates with a special chemical group. Protons are available in almost any metabolite. Proton nuclear magnetic resonance (1H NMR) spectroscopy may be able to identify and quantify simultaneously almost all metabolites in the micromolar and millimolar concentration range. For these reasons, NMR-based quantitative metabolomics is a powerful approach to study genetic metabolic diseases. NMR spectroscopy has been used as an analytical technique to detect metabolites, drugs, and toxic agents in body fluids, and several articles have reviewed NMR spectroscopy of body fluids. Two reviews described practical aspects relevant to metabolic analysis of body fluids and highlighted some of the strengths, limitations, and applications (4,5). Our group has reviewed body fluid NMR and IEM (6,7). These reviews show that more than 100 different IEM can be diagnosed by NMR spectroscopy. For most diseases, the Handbook of NMR Spectroscopy in Inborn Errors of Metabolism shows the characteristic parts of the NMR spectrum (8).

Original languageEnglish (US)
Title of host publicationMethodologies for Metabolomics
Subtitle of host publicationExperimental Strategies and Techniques
PublisherCambridge University Press
Pages299-316
Number of pages18
ISBN (Electronic)9780511996634
ISBN (Print)9780521765909
DOIs
StatePublished - Jan 1 2010
Externally publishedYes

Fingerprint

Inborn Errors Metabolism
Inborn Genetic Diseases
Metabolic Diseases
Metabolism
Magnetic Resonance Spectroscopy
Body Fluids
Nuclear magnetic resonance
Body fluids
Metabolites
Nuclear magnetic resonance spectroscopy
Protons
Genes
Encyclopedias
Biopolymers
Metabolomics
Knowledge Bases
Metabolome
Poisons
Human Body
Homeostasis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Engelke, U., Goudswaard, A., Wevers, R. A., & Morava-Kozicz, E. (2010). Nuclear magnetic resonance analysis and genetic metabolic disease. In Methodologies for Metabolomics: Experimental Strategies and Techniques (pp. 299-316). Cambridge University Press. https://doi.org/10.1017/CBO9780511996634.016

Nuclear magnetic resonance analysis and genetic metabolic disease. / Engelke, Udo; Goudswaard, Angelina; Wevers, Ron A.; Morava-Kozicz, Eva.

Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press, 2010. p. 299-316.

Research output: Chapter in Book/Report/Conference proceedingChapter

Engelke, U, Goudswaard, A, Wevers, RA & Morava-Kozicz, E 2010, Nuclear magnetic resonance analysis and genetic metabolic disease. in Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press, pp. 299-316. https://doi.org/10.1017/CBO9780511996634.016
Engelke U, Goudswaard A, Wevers RA, Morava-Kozicz E. Nuclear magnetic resonance analysis and genetic metabolic disease. In Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press. 2010. p. 299-316 https://doi.org/10.1017/CBO9780511996634.016
Engelke, Udo ; Goudswaard, Angelina ; Wevers, Ron A. ; Morava-Kozicz, Eva. / Nuclear magnetic resonance analysis and genetic metabolic disease. Methodologies for Metabolomics: Experimental Strategies and Techniques. Cambridge University Press, 2010. pp. 299-316
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