Congenital Disorders of Glycosylation

Dirk J. Lefeber; Hudson H. Freeze; Richard Steet; Taroh Kinoshita

doi:10.1101/glycobiology.4e.45

Congenital Disorders of Glycosylation

Review

In: Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45.

Authors

Dirk J. Lefeber, Hudson H. Freeze, Richard Steet, Taroh Kinoshita

Book Editors

Book Affiliations

¹ Distinguished Professor of Medicine and of Cellular & Molecular Medicine, Co-Director, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, California, USA
² Professor of Surgery, Beth Israel Deaconess Medical Center, Director, National Center for Functional Glycomics, Harvard Medical School, Boston, 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, Professor of Cell Biology, Albert Einstein College of Medicine, Bronx, New York, USA
⁵ Sr. Eminent Scholar in Drug Discovery, Georgia Research Alliance William Henry Terry Professor of Biochemistry & Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA
⁶ Professor of Mycology, ETH Zürich, Institute of Microbiology, Department of Biology, Zürich, Switzerland
⁷ Distinguished Research Professor, Georgia Athletics Association Professor in Complex Carbohydrate Research, Professor of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA
⁸ Endowed Chair and Professor, Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Immunology Frontier Research Center, Osaka University, Osaka, Japan
⁹ Distinguished Professor of Molecular Sciences, Macquarie University, Sydney, Australia and Principal Research Leader, Institute for Glycomics, Griffith University, Gold Coast, Australia
¹⁰ Professor and Eminent Scholar Emeritus, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA
¹¹ Professor, Departments of Pharmacology and Neuroscience, Johns Hopkins University, Baltimore, Maryland, USA
¹² Director of Max-Planck-Institute of Colloids and Interfaces, Potsdam, Germany, Professor, Freie Universität, Berlin, Germany

PMID: 35536942
Bookshelf ID: NBK579928
DOI: 10.1101/glycobiology.4e.45

Excerpt

This chapter discusses inherited human diseases that are caused by defects in glycan biosynthesis and metabolism (congenital disorders of glycosylation, CDGs). Representative examples are described of genetic defects in the major glycan families and what lessons we can learn from them about glycobiology. Among genetic disorders of glycosylation, those caused by somatic mutations are described in Chapter 46. Disorders affecting the lysosomal degradation of glycans are described in Chapter 44. Although the term “congenital disorders” by definition include those caused by nongenetic, unfavorable in utero conditions, the term “congenital disorders of glycosylation (CDG)” is now widely used as an equivalent of inherited disorders of glycosylation.

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