Liver disease despite treatment in CDG-Ib

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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib was first described in Québec, Canada.
It is characterized by chronic diarrhea with failure to thrive, protein-losing enteropathy, coagulopathy and occasionnaly hepatic fibrosis.

Mannose therapy improves the general condition and the digestive symptoms of these patients. However, it does not prevent liver fibrosis, as demonstrated in this paper:
Mol Genet Metab. 2007 Oct 16; [Epub ahead of print]

Development of liver disease despite mannose treatment in two patients with
CDG-Ib.

Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H,
Galmiche L, Jaubert F, Keyzer YD, Seta N, Lonlay PD.

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

 

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