Background

Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study.

Scope of review

This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG.

Major conclusions

In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG.

General significance

This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations.

中文翻译：

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先天性糖基化疾病：2020年仍“炙手可热”

背景

先天性糖基化疾病（CDG）是由蛋白质和脂质糖基化过程中重要的基因缺陷引起的遗传性代谢疾病。随着关于疾病机理和疗法发展的已知亚型和发现的数量不断增加，它仍然是一个非常活跃的研究领域。

审查范围

该综述带来了自2017年以来CDG相关研究的最新进展，描述了新的基因缺陷，病原生物机制，生物标志物和患者的表型。我们还总结了最常见疾病的临床指南以及可治疗CDG的当前治疗选择。

主要结论

在23种新的CDG中，大多数涉及神经系统疾病与其他器官疾病有关。越来越多地发现细胞代谢的不同方面（例如自噬）在多个CDG中受到干扰。

一般意义

这项工作突出了CDG领域的最新趋势，并全面概述了最新的临床建议。