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.

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx

VINCIGUERRA, Tiziana;BARBERA, Cristiana;
2008-01-01

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.
2008
31
2 (Suppl)
S437
S440
Calvo PL; Pagliardini S; Baldi M; Pucci A; Sturiale L; Garozzo D; Vinciguerra T; Barbera C; Jaeken J.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/136774
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