Abstract
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the specific defect. An abnormal trasferrin glycosylation pattern suggests that the defect is in either genes that synthesize and add the precursor glycan (Glc3Man9GlcNAc2) to proteins (Type I) or genes that process the protein-bound N-glycans (Type II). Type I defects create unoccupied glycosylation sites, while Type II defects give fully occupied sites with abnormally processed glycans. These types are expected to be mutually exclusive, but a group of patients is now emerging who have variable coagulopathy and hypoglycemia together with a combination of Type I and Type II transferrin features. This surprising finding makes identifying their defects more challenging, but the defects and associated clinical manifestations of these patients suggest that the N-glycosylation pathway has some secrets left to share.
Keywords: serum transferrin, carbohydrate deficient glycoprotein syndrome, MALDI-TOF-MS, LLO species, Electrospray Ionization Mass Spectrometry
Current Molecular Medicine
Title: Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond
Volume: 7 Issue: 4
Author(s): Hudson H. Freeze
Affiliation:
Keywords: serum transferrin, carbohydrate deficient glycoprotein syndrome, MALDI-TOF-MS, LLO species, Electrospray Ionization Mass Spectrometry
Abstract: The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the specific defect. An abnormal trasferrin glycosylation pattern suggests that the defect is in either genes that synthesize and add the precursor glycan (Glc3Man9GlcNAc2) to proteins (Type I) or genes that process the protein-bound N-glycans (Type II). Type I defects create unoccupied glycosylation sites, while Type II defects give fully occupied sites with abnormally processed glycans. These types are expected to be mutually exclusive, but a group of patients is now emerging who have variable coagulopathy and hypoglycemia together with a combination of Type I and Type II transferrin features. This surprising finding makes identifying their defects more challenging, but the defects and associated clinical manifestations of these patients suggest that the N-glycosylation pathway has some secrets left to share.
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Cite this article as:
Freeze H. Hudson, Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond, Current Molecular Medicine 2007; 7 (4) . https://dx.doi.org/10.2174/156652407780831548
DOI https://dx.doi.org/10.2174/156652407780831548 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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