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

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

doi:10.1038/s41436-019-0647-2

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

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引用

Verheijen, J., Tahata, S., Kozicz, T., Witters, P., & Morava, E. (2020). Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: An update. Genetics in Medicine, 22(2), 268-279. doi:10.1038/s41436-019-0647-2.

引用: https://hdl.handle.net/21.11116/0000-0006-DD5B-C

要旨

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.