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

K Mention; F Lacaille; V Valayannopoulos; S Romano; A Kuster; M Cretz; H Zaidan; L Galmiche; F Jaubert; Y de Keyzer; N Seta; P de Lonlay

doi:10.1016/j.ymgme.2007.08.126

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

Mol Genet Metab. 2008 Jan;93(1):40-3. doi: 10.1016/j.ymgme.2007.08.126. Epub 2007 Oct 22.

Authors

K Mention¹, F Lacaille, V Valayannopoulos, S Romano, A Kuster, M Cretz, H Zaidan, L Galmiche, F Jaubert, Y de Keyzer, N Seta, P de Lonlay

Affiliation

¹ Department of Paediatrics and Reference Centre for Metabolism, AP-HP, Necker Enfants Malades Hospital, 149 Rue de Sèvres, Paris Cedex, France.

PMID: 17945525
DOI: 10.1016/j.ymgme.2007.08.126

Abstract

We report here the 6- and 2-year follow-up of two patients diagnosed at 2 months of age with CDG-Ib who were treated with mannose, with digestive symptoms, liver involvement and hyperinsulinemic hypoglycaemia. Both developed liver fibrosis while general condition improved and other symptoms disappeared.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Carbohydrate Metabolism, Inborn Errors / complications*
Carbohydrate Metabolism, Inborn Errors / drug therapy*
Carbohydrate Metabolism, Inborn Errors / pathology
Child
Child, Preschool
Disease Progression
Female
Follow-Up Studies
Glycosylation*
Humans
Liver / pathology
Liver Diseases / etiology*
Liver Diseases / pathology
Mannose / therapeutic use*
Treatment Failure

Substances

Mannose