Donoghue Sarah, Kumble Smitha, Wasling Pontus, Alberg Lars, Linton-Dahlöf Pia, Yildiz Yilmaz, Ertuğrul İlker, Derks Terry, Koeberl Dwight, Lagrange Emmeline, Vergnaud Sabrina, Pezzani Lidia, Iascone Maria, Stark Zornitza, Bournazos Adam M, Cooper Sandra T, Kollberg Gittan
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Australia.
Metabolic Department, Women's and Children's Hospital, North Adelaide, Australia.
Am J Med Genet A. 2025 Nov;197(11):e64149. doi: 10.1002/ajmg.a.64149. Epub 2025 Jun 19.
Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular glycogen synthetase deficiency and has previously been identified as a cause of sudden cardiac arrest in childhood. Muscle biopsies of affected living relatives demonstrated a paucity of glycogen staining. We describe 10 individuals from seven families to document the evolution of cardiac disease in individuals identified through cascade testing. This study expands knowledge of the clinical phenotype of muscular GSD type 0 to include adult survivors with myopathy and further describes the natural history of cardiac manifestations.
糖原贮积病是一组影响体内葡萄糖稳态的遗传性疾病。肌肉糖原储备对于在剧烈活动和持续肌肉工作期间释放葡萄糖以提供能量供应至关重要。肌肉糖原贮积病0型（GSD0B）与GYS1基因的双等位基因变异有关，导致肌肉糖原合成酶缺乏，此前已被确定为儿童期心脏骤停的一个原因。受影响在世亲属的肌肉活检显示糖原染色缺乏。我们描述了来自7个家庭的10名个体，以记录通过级联检测确定的个体中心脏疾病的演变情况。本研究扩展了对0型肌肉糖原贮积病临床表型的认识，将患有肌病的成年幸存者纳入其中，并进一步描述了心脏表现的自然史。
