Congenital Disorders of Glycosylation: A Review
Issue:
Volume 1, Issue 2, September 2015
Pages:
6-28
Received:
23 September 2015
Accepted:
6 October 2015
Published:
14 October 2015
DOI:
10.11648/j.ajp.20150102.11
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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.
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 sp...
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