title: Mass spectrometry for congenital disorders of glycosylation, CDG.
abstract: Congenital disorders of glycosylation (CDG) constitute a group of diseases affecting N-linked glycosylation pathways. The classical type of CDG, now called CDG-I, results from deficiencies in the early glycosylation pathway for biosynthesis of lipid-linked oligosaccharide and its transfer to proteins in endoplasmic reticulum, while the CDG-II diseases are caused by defects in the subsequent processing steps. Mass spectrometry (MS) produced a milestone in CDG research, by localizing the CDG-I defect to the early glycosylation pathway in 1992. Currently, MS of transferrin, either by electrospray ionization or matrix-assisted laser desorption/ionization, plays the central role in laboratory screening of CDG-I. On the other hand, the glycopeptide analysis recently developed for site-specific glycans of glycoproteins allows detailed glycan analysis in a high throughput manner and will solve problems in CDG-II diagnosis. These techniques will facilitate studying CDG, a field now expanding to O-linked glycosylation and to acquired as well as inherited conditions that can affect protein glycosylation.
authors.affiliation: Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan. waday@mch.pref.osaka.jp
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Wada
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis / Q000378:metabolism*; D006023:Glycoproteins / Q000032:analysis / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D008954:Models, Biological; D009844:Oligosaccharides / Q000378:metabolism; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods; D014168:Transferrin / Q000032:analysis / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D009844:Oligosaccharides; D014168:Transferrin