Abstract：
ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients\' symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.
摘要：
ALG13-先天性糖基化障碍（CDG），是由ALG13（OMIM300776）中的致病变体引起的罕见X连接CDG，其影响N连接的糖基化途径。受影响的个体在婴儿期表现为主要的神经系统表现。癫痫痉挛是ALG13-CDG的常见表现症状。其他常见的表型包括发育迟缓，癫痫发作,智力残疾,小头畸形,和低张力。ALG13-CDG的当前管理旨在解决患者的症状。迄今为止,据报道，ALG13-CDG患者不到100人。在这篇文章中,一个国际CDG专家组审查了所有报告的ALG13-CDG患者,并提出了ALG13-CDG的诊断和治疗指南.该指南基于最佳可用数据和专家意见。神经症状在ALG13-CDG的表型中占主导地位，其中癫痫性痉挛被证实是ALG13-CDG最常见的表现症状，与张力减退和发育迟缓有关。我们建议ACTH/泼尼松龙治疗应首先进行试验，其次是vigabatrin,然而，生酮饮食已被证明在ALG13-CDG中具有有希望的结果。为了优化医疗管理,我们还建议早期心脏，胃肠,骨骼，以及受影响患者的行为评估。
