Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Jan Verheijen, Shawn Tahata, Tamas Kozicz, Peter Witters, Eva Morava

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)268-279
Number of pages12
JournalGenetics in Medicine
Volume22
Issue number2
DOIs
StatePublished - Feb 1 2020

Keywords

  • CDG
  • congenital disorders of glycosylation
  • dietary interventions
  • monosaccharide supplementation
  • therapy

ASJC Scopus subject areas

  • Genetics(clinical)

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