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.

中文翻译：

---

以神经肌肉、心脏和治疗方面为重点的 III 型糖原贮积症的叙述性评论

糖原贮积症 III 型 (GSDIII) 是一种罕见的先天性代谢错误，由于糖原脱支酶活性丧失，导致无法充分调动糖原储存及其在各种组织中的积累，特别是肝脏、心脏和骨骼肌。在儿科人群中，它通常表现为伴有或不伴有酮症性低血糖和发育不良的肝肿大。在成人人群中，在鉴别诊断左心室肥厚或肥厚型心肌病、肌病、运动不耐受，以及肝硬化或纤维化并随后出现肝功能衰竭时，也应考虑到它。在这篇综述文章中，我们首先概述了 GSDIII 的生化和临床方面。然后，我们关注最近关于与该疾病相关的心脏和神经肌肉损伤的发现。我们回顾了对这种疾病的病理生理学和临床表现的新见解，包括症状学、影像学和电生理学。最后，我们讨论了当前和即将到来的治疗策略，例如旨在替代出现故障的酶的基因治疗，为这种使人衰弱的疾病提供稳定和长期的治疗选择。