title: [Congenital disorders of glycosylation: state of the art and Spanish experience].
abstract: Congenital disorders of glycosylation (CDG) are a group of inherited disorders caused by defects in the synthesis and processing of the linked glycans of glycoproteins and other molecules. The first patients with CDG were described in 1980. Fifteen years later, phosphomannomutase was found to be the basis of the most frequent type: CDG-Ia. Over the last years, several novel types have been identified related to the N-glycosylation pathway, affecting enzymes or transporters of the cytosol, endoplasmic reticulum or the Golgi compartment. CDGs are multisystemic disorders, mainly affecting the central nervous system. Yet CDG-Ib and Ih are mainly hepato-intestinal diseases. Recently, several defects involving the O-glycosylation pathways have been described, indicating that some congenital muscular dystrophies and neuronal migration disorders are caused by congenital disorders of glycosylation.
authors.affiliation: Servei de Bioquímica, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, 08950 Esplugues de Llobregat, Barcelona, Spain. vilaseca@hsjdbcn.org
authors.forename: María Antonia
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002986:Clinical Trials as Topic; D006031:Glycosylation; D006801:Humans; D009844:Oligosaccharides / Q000378:metabolism; D013030:Spain / Q000453:epidemiology
chemical_list: D009844:Oligosaccharides