AlAnzi Talal, Al Harbi Fahad, AlGhamdi AbdulAziz, Mohamed Sarar
From the Genetics and Metabolic Medicine Division (AlAnzi, Mohamed), Pediatric Neurology Division (AlGhamdi), Pediatrics Department, Newborn Screening Laboratory (Al Harbi), Prince Sultan Military Medical City, and from Pediatrics Department, Alfaisal University (Mohamed), Riyadh, Kingdom of Saudi Arabia.
Neurosciences (Riyadh). 2022 Jan;27(1):45-49. doi: 10.17712/nsj.2022.1.20210681.
Homozygous or compound heterozygous pathogenic variants of the gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this gene in the pathophysiology of the disorder at the molecular level remains unclear. Being a very rare disorder, the medical knowledge is based on just a few reported cases. Here we report a 7-year-old girl who presented with exercise intolerance and hepatosplenomegaly. Her liver profile was constantly raised. The genetic investigation has revealed a variant of the gene of unknown significance, which has later been confirmed as pathogenic via a variety of clinical, genetic, and histopathological approaches. More importantly, it is evident that the availability of sophisticated genetic testing, such as whole-exome sequencing, has significantly improved the knowledge of and diagnosis of many rare metabolic disorders.
该基因的纯合或复合杂合致病变异可导致一种全身性疾病，其特征为复杂碳水化合物分子（即肌肉组织中的多葡聚糖体）的积累。该基因在该疾病病理生理学中的分子水平作用仍不清楚。作为一种非常罕见的疾病，医学知识仅基于少数已报道的病例。在此，我们报告一名7岁女孩，她表现出运动不耐受和肝脾肿大。她的肝功能指标持续升高。基因检测发现了一个意义不明的该基因变体，后来通过各种临床、基因和组织病理学方法证实其为致病性变体。更重要的是，很明显，诸如全外显子组测序等先进基因检测技术的应用显著提高了对许多罕见代谢性疾病的认识和诊断水平。
