Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations... Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Journal of Pediatrics Springer Journals

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

European Journal of Pediatrics, Volume 162 (6) – Mar 15, 2003

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Publisher
Springer Journals
Copyright
Copyright © 2003 by Springer-Verlag
Subject
LifeSciences
ISSN
0340-6199
eISSN
1432-1076
DOI
10.1007/s00431-002-1136-0
pmid
12756558
Publisher site
See Article on Publisher Site

Abstract

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.

Journal

European Journal of PediatricsSpringer Journals

Published: Mar 15, 2003

References

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