Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Muscle Nerve. 2012 Mar;45(3):436-40. doi: 10.1002/mus.22290.
No effective treatment for McArdle disease exists.We report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). After treatment, increased muscle phosphorylase activity was confirmed by follow-up muscle biopsy (3.8 times higher than pretreatment levels). Increased lactate levels were seen on the forearm exercise test, and regular work activities could be resumed. Vitamin B(6) supplementation can enhance residual phosphorylase activity and improve insufficient anaerobic glycolysis of skeletal muscle.
目前针对 McArdle 病尚无有效治疗方法。我们报告了 1 例日本 McArdle 病患者，给予维生素 B₆ 补充治疗（60-90mg/天）。治疗后，通过随访肌肉活检证实肌肉磷酸化酶活性增加（是治疗前的 3.8 倍）。在前臂运动试验中可见乳酸水平升高，且可以恢复正常工作活动。维生素 B₆ 补充可以增强残余磷酸化酶活性，改善骨骼肌不足的无氧糖酵解。
