Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

作者：Sukigara Sayuri; Liang Wen Chen; Komaki Hirofumi; Fukuda Tokiko; Miyamoto Takeshi; Saito Takashi; Saito Yoshiaki; Nakagawa Eiji; Sugai Kenji; Hayashi Yukiko K; Sugie Hideo; Sasaki Masayuki; Nishino Ichizo^*

来源：Neuromuscular Disorders, 2012, 22(2): 162-165.

DOI：10.1016/j.nmd.2011.08.008

• Glycogen storage disease
• Glycogen synthase
• Glycogen
• Syncope
• Sudden death

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.

• 出版日期2012-2