title: Development of liver disease despite mannose treatment in two patients with CDG-Ib.
abstract: We report here the 6- and 2-year follow-up of two patients diagnosed at 2 months of age with CDG-Ib who were treated with mannose, with digestive symptoms, liver involvement and hyperinsulinemic hypoglycaemia. Both developed liver fibrosis while general condition improved and other symptoms disappeared.
authors.affiliation: Department of Paediatrics and Reference Centre for Metabolism, AP-HP, Necker Enfants Malades Hospital, 149 Rue de Sèvres, Paris Cedex, France.
authors.forename: K
authors.initials: K
authors.lastname: Mention
authors.forename: F
authors.initials: F
authors.lastname: Lacaille
authors.forename: V
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: S
authors.initials: S
authors.lastname: Romano
authors.forename: A
authors.initials: A
authors.lastname: Kuster
authors.forename: M
authors.initials: M
authors.lastname: Cretz
authors.forename: H
authors.initials: H
authors.lastname: Zaidan
authors.forename: L
authors.initials: L
authors.lastname: Galmiche
authors.forename: F
authors.initials: F
authors.lastname: Jaubert
authors.forename: Y
authors.initials: Y
authors.lastname: de Keyzer
authors.forename: N
authors.initials: N
authors.lastname: Seta
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006031:Glycosylation; D006801:Humans; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000209:etiology* / Q000473:pathology; D008358:Mannose / Q000627:therapeutic use*; D017211:Treatment Failure
chemical_list: D008358:Mannose