title: The carbohydrate-deficient glycoprotein syndromes: an overview.
abstract: The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly recognized family of diseases with autosomal recessive inheritance. The basic defects are probably in the glycosylation pathway (endoplasmic reticulum, Golgi apparatus or post-Golgi). In the present state of our knowledge the central nervous system is always severely affected but nearly all other organs are involved to a variable degree. Like the peroxisomal disorders they also comprise dysmorphic features, the most typical being an abnormal distribution of subcutaneous adipose tissue. A reliable diagnostic test is isoelectric focusing of serum transferrin showing a cathodal shift as a consequence of the partial sialic acid deficiency. Prenatal diagnosis and heterozygote detection are not yet available. These diseases should be differentiated from secondary CDG syndromes such as classical galactosaemia.
authors.affiliation: Department of Pediatrics, University of Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: H
authors.initials: H
authors.lastname: Carchon
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D002241:Carbohydrates / Q000172:deficiency*; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D013577:Syndrome
chemical_list: D002241:Carbohydrates; D006023:Glycoproteins