title: Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.
abstract: A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. Further studies as to the cause of this 'apparently new' CDG, are ongoing. On the basis of our data and a literature review, we suggest that subjects with asymptomatic hypertransaminasaemia be screened for CDG.
authors.affiliation: Department of Pediatric Gastroenterology, University of Turin, Regina Margherita Hospital, Piazza Polonia 94, 10126, Turin, Italy. pierluigi.calvo@fastwebnet.i
authors.forename: P L
authors.initials: PL
authors.lastname: Calvo
authors.forename: S
authors.initials: S
authors.lastname: Pagliardini
authors.forename: M
authors.initials: M
authors.lastname: Baldi
authors.forename: A
authors.initials: A
authors.lastname: Pucci
authors.forename: L
authors.initials: L
authors.lastname: Sturiale
authors.forename: D
authors.initials: D
authors.lastname: Garozzo
authors.forename: T
authors.initials: T
authors.lastname: Vinciguerra
authors.forename: C
authors.initials: C
authors.lastname: Barbera
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000328:Adult; D000410:Alanine Transaminase / Q000097:blood*; D001219:Aspartate Aminotransferases / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D004796:Clinical Enzyme Tests; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests; D013997:Time Factors; D015854:Up-Regulation
chemical_list: D015415:Biomarkers; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase