4.4 Review

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

期刊

JOURNAL OF INHERITED METABOLIC DISEASE
卷 44, 期 3, 页码 521-533

出版社

WILEY
DOI: 10.1002/jimd.12355

关键词

cardiomyopathy; gene therapy; glycogen storage disorder; hypoglycemia; metabolic disease; myopathy

资金

  1. Agence Nationale de la Recherche [ANR-17-CE18-0014]
  2. Association Francaise contre les Myopathies
  3. Association francophone des Glycogenoses

向作者/读者索取更多资源

GSDIII is a rare genetic metabolic disorder primarily affecting the liver, heart, and skeletal muscle. While it presents with hepatomegaly and growth delay in children, other heart and muscle issues should be considered in adults. In addition to discussing the pathophysiology and treatment strategies, new findings related to cardiac and neuromuscular impairment are also highlighted.
Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, notably liver, cardiac and skeletal muscle. In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. In this review article, we first present an overview of the biochemical and clinical aspects of GSDIII. We then focus on the recent findings regarding cardiac and neuromuscular impairment associated with the disease. We review new insights into the pathophysiology and clinical picture of this disorder, including symptomatology, imaging and electrophysiology. Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long-term therapeutic option for this debilitating disease.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据