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Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glyc...

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Autores principales: Witters, Peter, Cassiman, David, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707694/
https://www.ncbi.nlm.nih.gov/pubmed/29112118
http://dx.doi.org/10.3390/nu9111222
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author Witters, Peter
Cassiman, David
Morava, Eva
author_facet Witters, Peter
Cassiman, David
Morava, Eva
author_sort Witters, Peter
collection PubMed
description Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We also emphasize now the importance of early screening for CDG in patients with mild hepatopathy but also in cholestasis.
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spelling pubmed-57076942017-12-05 Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) Witters, Peter Cassiman, David Morava, Eva Nutrients Review Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We also emphasize now the importance of early screening for CDG in patients with mild hepatopathy but also in cholestasis. MDPI 2017-11-07 /pmc/articles/PMC5707694/ /pubmed/29112118 http://dx.doi.org/10.3390/nu9111222 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Witters, Peter
Cassiman, David
Morava, Eva
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title_full Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title_fullStr Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title_full_unstemmed Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title_short Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
title_sort nutritional therapies in congenital disorders of glycosylation (cdg)
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707694/
https://www.ncbi.nlm.nih.gov/pubmed/29112118
http://dx.doi.org/10.3390/nu9111222
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