Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Neuromuscul Disord. 2012 Feb;22(2):162-5. doi: 10.1016/j.nmd.2011.08.008. Epub 2011 Sep 29.
Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl, who had been suffering from recurrent attacks of exertional syncope accompanied by muscle weakness and pain since age 5 years until she died of cardiac arrest at age 12. Muscle biopsy at age 11 years showed glycogen depletion in all muscle fibers. Her loss of consciousness was gradual and lasted for hours, suggesting that the syncope may not be simply caused by cardiac event but probably also contributed by metabolic distress.
肌肉糖原贮积症 0 型（GSD0）是由于糖原合酶 1（GYS1）缺乏导致骨骼肌和心肌中的糖原耗竭引起的，该基因由 GYS1 基因编码。目前仅发现了两个具有这种疾病的家族。我们报告了一位新的肌肉 GSD0 患者，一名日本女孩，她从 5 岁开始反复发作劳累性晕厥，伴有肌肉无力和疼痛，直到 12 岁因心脏骤停而死亡。11 岁时的肌肉活检显示所有肌纤维均有糖原耗竭。她的意识丧失是逐渐发生的，持续数小时，这表明晕厥可能不仅仅是由心脏事件引起的，还可能与代谢窘迫有关。
