title: Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
abstract: An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.
authors.affiliation: Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
authors.forename: C J
authors.initials: CJ
authors.lastname: Hendriksz
authors.forename: P
authors.initials: P
authors.lastname: McClean
authors.forename: M J
authors.initials: MJ
authors.lastname: Henderson
authors.forename: D G
authors.initials: DG
authors.lastname: Keir
authors.forename: V C
authors.initials: VC
authors.lastname: Worthington
authors.forename: F
authors.initials: F
authors.lastname: Imtiaz
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
mesh_terms: D000284:Administration, Oral; D018981:Congenital Disorders of Glycosylation / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008358:Mannose / Q000008:administration & dosage*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D014168:Transferrin / Q000737:chemistry
chemical_list: D014168:Transferrin; D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose