Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

Peter Witters,David Cassiman,Eva Morava

doi:10.3390/nu9111222

Peter Witters, David Cassiman + Show 1 more

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https://doi.org/10.3390/nu9111222

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Journal: Nutrients	Publication Date: Nov 7, 2017
Citations: 42	License type: CC BY 4.0

Affiliation: KU Leuven

Abstract

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.

Highlights

Congenital disorders of glycosylation (CDG) are a family of diseases with the common denominator that they all affect the most important posttranslational modification of proteins, i.e., glycosylation [1]
AND and OR operators were used in the database search to combine the keywords “therapy”, “treatment”, “supplement” or “diet” in combination with CDG
Papers were included in present review if they contained information on potential nutritional treatments in CDG that are known to affect the liver

Summary

Introduction

Congenital disorders of glycosylation (CDG) are a family of diseases with the common denominator that they all affect the most important posttranslational modification of proteins, i.e., glycosylation [1]. They were initially described by Jaak Jaeken and currently compromise a group of more than 130 separate entities [1]. These phosphorylated sugars are subsequently transferred to the lipid dolichol, in the membrane of the endoplasmic reticulum (ER) This stepwise enzymatic assembly process leads to the formation of a glycan molecule. It is first assembled at the cytoplasmic surface and later inside the ER

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