ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-04-23 DOI:10.1016/j.ymgme.2024.108472
Rameen Shah , Erik A. Eklund , Silvia Radenkovic , Mustafa Sadek , Ibrahim Shammas , Sanne Verberkmoes , Bobby G. Ng , Hudson H. Freeze , Andrew C. Edmondson , Miao He , Tamas Kozicz , Ruqaiah Altassan , Eva Morava
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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.

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ALG13-先天性糖基化紊乱(ALG13-CDG):最新临床和分子学回顾及临床管理指南
ALG13-先天性糖基化紊乱(ALG13-Congenital Disorder of Glycosylation,CDG)是一种罕见的X连锁糖基化紊乱,由影响N-连接糖基化途径的ALG13(OMIM 300776)致病变体引起。患者在婴儿期主要表现为神经系统症状。癫痫痉挛是 ALG13-CDG 常见的表现症状。其他常见表型包括发育迟缓、癫痫发作、智力障碍、小头畸形和肌张力低下。目前对 ALG13-CDG 的治疗主要针对患者的症状。在本文中,一个 CDG 国际专家组回顾了所有已报道的 ALG13-CDG 患者,并提出了 ALG13-CDG 的诊断和管理指南。该指南基于现有的最佳数据和专家意见。神经系统症状在 ALG13-CDG 的表型中占主导地位,癫痫痉挛被证实是 ALG13-CDG 最常见的症状,同时伴有肌张力低下和发育迟缓。我们建议首先试用促肾上腺皮质激素/泼尼松龙治疗,然后再试用维加巴曲林治疗,但是生酮饮食对ALG13-CDG有很好的疗效。为了优化医疗管理,我们还建议尽早对患者进行心脏、胃肠道、骨骼和行为评估。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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