Genetic Disorders of Glycosylation

Hudson H. Freeze; Harry Schachter; Taroh Kinoshita

doi:10.1101/glycobiology.3e.045

Genetic Disorders of Glycosylation

Review

In: Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015. Chapter 45.

2017.

Authors

Hudson H. Freeze, Harry Schachter, Taroh Kinoshita

Book Editors

Book Affiliations

¹ Distinguished Professor of Medicine and Cellular & Molecular Medicine, Co-Director, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, California, USA
² Professor of Surgery, Director, National Center for Functional Glycomics, Harvard Medical School, Cambridge, Massachusetts, USA
³ Distinguished Professor of Cellular & Molecular Medicine, Co-Director, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, California, USA
⁴ Horace W. Goldsmith Foundation Chair and Professor of Cell Biology, Albert Einstein College of Medicine, New York, New York, USA
⁵ Professor and Chairman of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA
⁶ Professor of Mycology, ETH Zürich, Zürich, Switzerland
⁷ Regents Professor and Director, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA
⁸ Professor, Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan
⁹ Professor of Glycoproteomics and Glycomics, Macquarie University and Institute for Glycomics, Griffith University, Sydney, Australia
¹⁰ Professor and Eminent Scholar, University of Georgia, Athens, Georgia, USA
¹¹ Professor, Departments of Pharmacology and Neuroscience, Johns Hopkins University, Baltimore, Maryland, USA
¹² Director, Max-Planck-Institute of Colloids and Interfaces, Potsdam, Germany

Excerpt

This chapter discusses inherited human diseases that affect glycan biosynthesis and metabolism. Representative examples of diseases caused by defects in several major glycan families are described. Disorders affecting the degradation of glycans are described in Chapter 44.

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