title: Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
abstract: Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.
authors.affiliation: Klinik und Poliklinik für Kinderheilkunde, 48149 Münster, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Niehues
authors.forename: M
authors.initials: M
authors.lastname: Hasilik
authors.forename: G
authors.initials: G
authors.lastname: Alton
authors.forename: C
authors.initials: C
authors.lastname: Körner
authors.forename: M
authors.initials: M
authors.lastname: Schiebe-Sukumar
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
authors.forename: K P
authors.initials: KP
authors.lastname: Zimmer
authors.forename: R
authors.initials: R
authors.lastname: Wu
authors.forename: E
authors.initials: E
authors.lastname: Harms
authors.forename: K
authors.initials: K
authors.lastname: Reiter
authors.forename: K
authors.initials: K
authors.lastname: von Figura
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
authors.forename: H K
authors.initials: HK
authors.lastname: Harms
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
mesh_terms: D002478:Cells, Cultured; D006023:Glycoproteins / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008297:Male; D008358:Mannose / Q000627:therapeutic use*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D009154:Mutation; D011499:Protein Processing, Post-Translational; D011504:Protein-Losing Enteropathies / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D013577:Syndrome; D014168:Transferrin / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D014168:Transferrin; D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose