title: Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.
abstract: Glycosylation is the most common chemical process of protein modification and occurs in every living cell. Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family, with about 50 disorders reported since its first clinical description in 1980. Most of the human diseases have been discovered recently. CDG result from defects in the synthesis of the N- and O-glycans moiety of glycoproteins, and in the attachment to the polypeptide chain of proteins. These defects have been found in the activation, presentation, and transport of sugar precursors, in the enzymes responsible for glycosylation, and in proteins that control the traffic of component. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. Most diseases are due to defects in the N-glycosylation pathway. For the sake of convenience, CDG were divided into 2 types, type I and II. CDG can affect nearly all organs and systems. The considerable variability of clinical features makes it difficult to recognize patients with CDG. Diagnosis can be made on the basis of abnormal glycosylation display. In this paper, an overview of CDG with a new nomenclature limited to the group of protein N-glycosylation disorders, clinical phenotype and diagnostic approach, have been presented. The location, reasons for defects, and the number of cases have been also described. This publication aims to draw attention to the possibility of occurrence of CDG in each multisystem disorder with an unknown origin.
authors.affiliation: Department of Biochemical Diagnostics, Medical University of Bialystok, Białystok, Poland. cylwikb@umb.edu.pl
authors.forename: Bogdan
authors.initials: B
authors.lastname: Cylwik
authors.forename: Marcin
authors.initials: M
authors.lastname: Naklicki
authors.forename: Lech
authors.initials: L
authors.lastname: Chrostek
authors.forename: Ewa
authors.initials: E
authors.lastname: Gruszewska
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D004721:Endoplasmic Reticulum / Q000378:metabolism; D006031:Glycosylation; D006056:Golgi Apparatus / Q000502:physiology; D006602:Hexosyltransferases / Q000172:deficiency; D006801:Humans; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics
chemical_list: D006602:Hexosyltransferases; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human