title: [Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
abstract: Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic.
authors.forename: Heli
authors.initials: H
authors.lastname: Sätilä
authors.forename: Anna-Leena
authors.initials: AL
authors.lastname: Kuusela
authors.forename: Kati
authors.initials: K
authors.lastname: Pietilä
authors.forename: Harri
authors.initials: H
authors.lastname: Niinikoski
authors.forename: Päivi
authors.initials: P
authors.lastname: Keskinen
mesh_terms: D002885:Chromosomes, Human, Pair 16; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase