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.

中文翻译：

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涉及 N-连接糖基化的先天性糖基化障碍 (CDG) 的治疗方法：更新。

先天性糖基化障碍 (CDG) 是一组临床和遗传异质性代谢障碍。已经描述了超过 150 种 CDG 类型。大多数 CDG 类型是极其罕见的疾病。影响 N-糖基化的 CDG 类型是最常见的 CDG 类型，具有新兴的治疗可能性。这篇综述是对影响 N-连接糖基化途径的疾病的可用疗法的更新。在综述的第一部分，我们重点介绍了按器官系统组织的 N-连接糖基化 CDG 类型的临床表现、一般管理原则和疾病特异性治疗。审查的第二部分侧重于当前可用和正在开发的治疗策略。我们总结了营养疗法、移植、活性糖、基因治疗和药理学伴侣，并概述了 CDG 治疗可能性的预期扩展。我们的目标是全面更新涉及 N-连接糖基化的 CDG 类型的可治疗方面，特别强调所涉及器官系统的疾病特异性治疗方案；呼吁进行自然历史研究；以及目前和未来的 CDG 治疗策略。