先天性糖基化障碍：2020 年依然“热门”。
Congenital disorders of glycosylation: Still "hot" in 2020.
机构信息
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
出版信息
Biochim Biophys Acta Gen Subj. 2021 Jan;1865(1):129751. doi: 10.1016/j.bbagen.2020.129751. Epub 2020 Sep 28.
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.
背景
先天性糖基化障碍（CDG）是由蛋白质和脂质糖基化过程中重要基因缺陷引起的遗传性代谢疾病。随着已知亚型的数量不断增加，以及对疾病机制和治疗开发的发现，它仍然是一个非常活跃的研究领域。
综述范围
本篇综述介绍了自 2017 年以来与 CDG 相关的研究进展，描述了新的基因缺陷、病理生物学机制、生物标志物和患者表型。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，大多数都存在神经受累与其他器官疾病相关。越来越多的证据表明，多种 CDG 中细胞代谢的不同方面（如自噬）受到干扰。
一般意义
这项工作强调了 CDG 领域的最新趋势，并全面概述了最新的临床建议。
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