title: Congenital disorders of glycosylation--a challenging group of IEMs.
abstract: Congenital disorders of glycosylation (CDG) are a rapidly growing group of inherited errors of metabolism (IEMs) due to an impairment of one or several glycosylation pathways. During recent years over 30 CDG subtypes have been identified at a molecular and biochemical level. The clinical manifestations in CDG are heterogeneous and may be highly variable within the same subtype and even among affected siblings. Novel insights into the extremely complex glycosylation pathways have necessitated several reclassifications of the group of CDG. Today CDG comprise not only the formerly known multisystem glycosylation defects but also some tissue-specific glycosylation defects, implicating a different diagnostic work-up depending on the underlying glycosylation defect. In 2007 the expanding group of CDG is an enormous challenge to all specialists working in the field of IEMs. This review gives a brief overview about the expanded group of CDG and summarizes the main implications for clinicians.
authors.affiliation: Division of Biochemical and Paediatric Genetics, Department of Paediatrics, University Children’s Hospital Vienna, Vienna, Austria. julia.vodopiutz@meduniwien.ac.at
authors.forename: J
authors.initials: J
authors.lastname: Vodopiutz
authors.forename: O A
authors.initials: OA
authors.lastname: Bodamer
mesh_terms: D000818:Animals; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006031:Glycosylation; D006801:Humans; D010641:Phenotype; D011379:Prognosis; D011499:Protein Processing, Post-Translational / Q000235:genetics