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Oligosaccharides

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Laboratory Guide to the Methods in Biochemical Genetics

Abstract

Inherited deficiencies of enzymes required for the lysosomal degradation of oligosaccharides cause glycoprotein storage disorders. Patients with these diseases exhibit a clinical phenotype akin to that of mucopolysaccharidoses albeit with a normal urinary glycosaminoglycan excretion. The thin-layer chromatographic analysis of urinary oligosaccharides provides a simple and effective screening procedure for those patients in whom such a disorder is suspected. The excretion patterns are characteristic for a particular disorder, whereby the suspected diagnosis must be confirmed by enzymatic assay. New technologies such as tandem or time-of-flight mass spectrometry may be useful for the structural investigation of hitherto unknown urinary oligosaccharides or for monitoring specific oligosaccharides in the course of enzyme replacement therapy.

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Author information

Authors and Affiliations

  1. Zentrum der Kinderheilkunde, JWG Universität Frankfurt, Theodor-Stern-Kai 7, 60596, Frankfurt, Germany

    Adrian C. Sewell

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  1. Adrian C. Sewell
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Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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© 2008 Springer-Verlag Berlin Heidelberg

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Sewell, A. (2008). Oligosaccharides. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_18

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_18

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-76697-1

  • Online ISBN: 978-3-540-76698-8

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