TY - CHAP M1 - Book, Section TI - Chapter 163. Congenital Disorders of Glycosylation A1 - Jaeken, Jaak A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. Y1 - 2011 N1 - T2 - Rudolph's Pediatrics, 22e AB - Glycosylation is an important posttranslational protein modification occurring in the cytoplasm, the endoplasmic reticulum, and the Golgi apparatus. A rapidly growing family of genetic diseases is due to defects in protein glycosylation (congenital disorders of glycosylation [CDG]). Most CDG are severe, multisystem diseases with important neurological involvement. Some 30 CDG have been identified. CDG due to an N-glycosylation defect (there are 18 disorders) comprise two groups: CDG-I (with absence of one or more glycans; CDG-Ia through CDG-IL) and CDG-II (with incomplete glycans; CDG-IIa through CDG-IIf). Six disorders have been identified in O-glycosylation, including some long-known diseases such as hereditary multiple exostoses; another six disorders have a combined N- and O-glycosylation defect. Important tools in the diagnosis are transferrin isoelectric focusing, analysis of lipid-linked oligosaccharides and of protein-linked glycans, and mutation analysis. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6727060 ER -