Treatment Options in Congenital Disorders of Glycosylation.

Julien H Park,Thorsten Marquardt

doi:10.3389/fgene.2021.735348

Julien H Park, Thorsten Marquardt

Open Access

https://doi.org/10.3389/fgene.2021.735348

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Journal: Frontiers in Genetics	Publication Date: Sep 10, 2021
Citations: 13	License type: CC BY 4.0

Affiliation: University Hospital Münster

Abstract

Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases.

Highlights

Congenital disorders of glycosylation are a group of inborn errors of metabolism affecting the synthesis, processing, and addition of carbohydrate entities to macromolecules, resulting in an extremely varied group of phenotypes affecting multiple organ systems
On the background of these findings, oral galactose supplementation at doses of up to 1.5 g/kg bodyweight/day or higher was proposed as a potential treatment and correlated with normalized transferrin glycosylation as well as clinical improvement (Dörre et al, 2015)
There are reports of incomplete normalization of transferrin glycosylation at standard doses of galactose, possibly indicating that supplementation at higher doses as done, e.g., in SLC39A8-congenital disorders of glycosylation (CDG) might be needed in certain cases (Nolting et al, 2017)

Summary

Introduction

Congenital disorders of glycosylation are a group of inborn errors of metabolism affecting the synthesis, processing, and addition of carbohydrate entities to macromolecules, resulting in an extremely varied group of phenotypes affecting multiple organ systems. On the background of these findings, oral galactose supplementation at doses of up to 1.5 g/kg bodyweight/day or higher was proposed as a potential treatment and correlated with normalized transferrin glycosylation as well as clinical improvement (Dörre et al, 2015).

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