Therapeutic Approaches in Congenital Disorders of Glycosylation (CDG) Involving N-linked Glycosylation: an Update

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2019 Sep 20

PMID 31534212

Citations 45

Authors

Jan Verheijen

Shawn Tahata

Tamas Kozicz

Peter Witters

Eva Morava

Affiliations

Soon will be listed here.

Abstract

Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG types are ultrarare disorders. CDG types affecting N-glycosylation are the most common type of CDG with emerging therapeutic possibilities. This review is an update on the available therapies for disorders affecting the N-linked glycosylation pathway. In the first part of the review, we highlight the clinical presentation, general principles of management, and disease-specific therapies for N-linked glycosylation CDG types, organized by organ system. The second part of the review focuses on the therapeutic strategies currently available and under development. We summarize the successful (pre-) clinical application of nutritional therapies, transplantation, activated sugars, gene therapy, and pharmacological chaperones and outline the anticipated expansion of the therapeutic possibilities in CDG. We aim to provide a comprehensive update on the treatable aspects of CDG types involving N-linked glycosylation, with particular emphasis on disease-specific treatment options for the involved organ systems; call for natural history studies; and present current and future therapeutic strategies for CDG.

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