Congenital Disorders of Glycosylation: A Review
American Journal of Pediatrics
Volume 1, Issue 2, September 2015, Pages: 6-28
Received: Sep. 23, 2015; Accepted: Oct. 6, 2015; Published: Oct. 14, 2015
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Ziad Albahri, Department of Pediatrics - Faculty hospital, Charles University in Hradec Králové, Czech Republic
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Abstract
Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening all types of CDG, analysis of serum Tf by isoelectric focusing (IEF) or high-performance liquid chromatography (HPLC) / (matrix-assisted laser desorption/ionization MALDI) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and diagnosis. We here review the clinical phenotypes in CDG defects.
Keywords
Congenital Disorders of Glycosylation, Cdg, Transferrin, O-Glycosylation
To cite this article
Ziad Albahri, Congenital Disorders of Glycosylation: A Review, American Journal of Pediatrics. Vol. 1, No. 2, 2015, pp. 6-28. doi: 10.11648/j.ajp.20150102.11
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Copyright © 2015 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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