CDG syndrome is the abbreviation for "Congenital Disorders of Glycosylation". CDG are rare inherited metabolic conditions which affects human development and physiology. They often causes extremely serious, and possibly fatal, medical problems to infants. CDG are classified as CDG type-I and type-II, depending on the localization of the biochemical defect. Currently, twelve CDG type-I variants have been identified and named CDG-Ia to CDG-IL, wheather only four variants of CDG Type-II have been described (CDG-IIa to -IId). They are all caused by abnormal synthesis of the sugar groups which form parts of glycoproteins which, in turn, leads to disorders of the nerves, liver and intestines. The specific effects differ according to the particular abnormal synthesis involved.
CDGsyndrome is an abbreviation for Congenital Disorders of Glycosylation.
CDG are rare inherited metabolic conditions which affect human development and physiology.
CDG are classified as CDG type-I, -II, -III and -IV, depending on the location of the biochemical defect in the metabolic pathway relative to the action of oligosaccharyltransferase.
CDGsyndrome represents a group of innate diseases affecting the synthesis of glycoproteins; their classification is based on the level of the limiting step of glycosylation.
CDG II a is attributable to a deficit in UDP-GlcNAc:alpha-6-Dmannoside beta 1,2-N-Acetyl glucosaminyltransferase II (GnT II) of the median compartment of the Golgi apparatus and mutations in the MGAT2 gene.
CDG IIb is attributable to a deficit in glucosidase I of the endoplasmic reticulum and mutations in the corresponding gene.
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