Abstract:

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.

日本語要旨:

世界で3家系目となる糖原病0型(GSD0)の患者を報告した。5歳時より労作後失神を繰り返し、12歳で死亡した。11歳時の筋生検でグリコーゲンが消失していたこと、GYS1遺伝子に変異を認めたことからGSD0の診断を確定した。失神は比較的ゆっくり起こり約1時間継続していたことから、GSD0における意識消失発作は、単なる心原性失神では無いことが示唆された。