title: Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.
abstract: We report a 7-year-old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.
authors.affiliation: Unit of Metabolic Diseases, Department of Pediatrics, Lille University Children's Hospital, Lille, France.
authors.forename: D
authors.initials: D
authors.lastname: Penel-Capelle
authors.forename: D
authors.initials: D
authors.lastname: Dobbelaere
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: A
authors.initials: A
authors.lastname: Klein
authors.forename: M
authors.initials: M
authors.lastname: Cartigny
authors.forename: J
authors.initials: J
authors.lastname: Weill
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology* / Q000517:prevention & control; D006031:Glycosylation; D006529:Hepatomegaly / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood / Q000209:etiology; D007003:Hypoglycemia / Q000097:blood / Q000209:etiology; D007223:Infant; D008358:Mannose / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics
chemical_list: D008358:Mannose