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Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family Abstract Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. These disorders cause a wide range of human diseases, with examples emanating from all medical subspecialties. Since our 2001 review on CDG (36), this field has seen substantial growth: The number of N-glycosylation defects has doubled (from 6 to 12), five new O-glycosylation defects have been added to the two previously known ones, three combined N- and O-glycosylation defects have been identified, the first lipid glycosylation defects have been discovered, and a new domain, that of the hyperglycosylation defects, has been introduced. A number of CDG are due to defects in enzymes with a putative glycosyltransferase function. There is also a growing group of patients with unidentified defects (CDG-x), some with typical clinical presentations and others with presentations not seen before in CDG. This review focuses on the clinical, biochemical, and genetic characteristics of CDG and on advances expected in their future study and clinical management. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Genomics and Human Genetics Annual Reviews

Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

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Publisher
Annual Reviews
Copyright
Copyright © 2007 by Annual Reviews. All rights reserved
ISSN
1527-8204
eISSN
1545-293X
DOI
10.1146/annurev.genom.8.080706.092327
pmid
17506657
Publisher site
See Article on Publisher Site

Abstract

Abstract Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. These disorders cause a wide range of human diseases, with examples emanating from all medical subspecialties. Since our 2001 review on CDG (36), this field has seen substantial growth: The number of N-glycosylation defects has doubled (from 6 to 12), five new O-glycosylation defects have been added to the two previously known ones, three combined N- and O-glycosylation defects have been identified, the first lipid glycosylation defects have been discovered, and a new domain, that of the hyperglycosylation defects, has been introduced. A number of CDG are due to defects in enzymes with a putative glycosyltransferase function. There is also a growing group of patients with unidentified defects (CDG-x), some with typical clinical presentations and others with presentations not seen before in CDG. This review focuses on the clinical, biochemical, and genetic characteristics of CDG and on advances expected in their future study and clinical management.

Journal

Annual Review of Genomics and Human GeneticsAnnual Reviews

Published: Sep 22, 2007

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