Literature DB >> 17945525

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

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.   

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.

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Year:  2007        PMID： 17945525     DOI： 10.1016/j.ymgme.2007.08.126

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  20 in total

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Journal:  Ann Transl Med       Date:  2018-12

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Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

3.  Therapeutic Monosaccharides: Looking Back, Moving Forward.

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Authors:  Vandana Sharma; Mie Ichikawa; Hudson H Freeze
Journal:  Biochem Biophys Res Commun       Date:  2014-06-12       Impact factor: 3.575

Review 5.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

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Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

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Authors:  Christian Thiel; Christian Körner
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Review 7.  Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

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8.  A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.

Authors:  Jaime Chu; Alexander Mir; Ningguo Gao; Sabrina Rosa; Christopher Monson; Vandana Sharma; Richard Steet; Hudson H Freeze; Mark A Lehrman; Kirsten C Sadler
Journal:  Dis Model Mech       Date:  2012-08-16       Impact factor: 5.758

9.  Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

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10.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05
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