Aoyama Tomonori, Yazawa Ikuru, Sugie Hideo, Shigematsu Yosuke, Sakura Nobuo, Nakase Hirofumi
Department of Neurology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan.
No To Shinkei. 2004 Jan;56(1):64-8.
We experienced a 24-year-old male patient with myalgia and myoglobuinuria followed by severe exercise from childhood. In 18 years old, he had severe myaglia after a long time-night trip by bus. He was diagnosed as acute renal failure induced by rhabdomyolysis and treated with hemodialysis. In 24 years old, he was admitted to our hospital because of repeated rhabdomyolysis. We performed muscle biopsy from right quadriceps femoris, however histological and immunohistochemistological studies were normal. Ischemic forearm exercise test showed the elevation of lactic acid in serum. Therefore, we performed the analysis of acylcarnitine in serum, and the measurement of enzyme in beta-oxidation in muscle and white blood cells. These showed the lack of very-long-chain-acyl coA dehydrogenase (VLCAD) activity. He was diagnosed as skeletal muscle type VLCAD deficiency. Under the guidance of high carbohydrate and low fat diet, creatine kinase was controlled around 400 IU/l. VLCAD deficiency is important to make a differential diagnosis of young cases with recurrent elevation of creatine kinase.
我们遇到一名24岁男性患者，自幼起在剧烈运动后出现肌痛和肌红蛋白尿。18岁时，他在长时间乘坐夜间巴士旅行后出现严重肌痛。他被诊断为横纹肌溶解症所致的急性肾衰竭，并接受了血液透析治疗。24岁时，他因反复出现横纹肌溶解症而入住我院。我们对其右股四头肌进行了肌肉活检，但组织学和免疫组织化学研究结果均正常。缺血性前臂运动试验显示血清乳酸升高。因此，我们对血清中的酰基肉碱进行了分析，并对肌肉和白细胞中的β氧化酶进行了测定。结果显示缺乏极长链酰基辅酶A脱氢酶（VLCAD）活性。他被诊断为骨骼肌型VLCAD缺乏症。在高碳水化合物和低脂饮食的指导下，肌酸激酶控制在400 IU/l左右。VLCAD缺乏症对于鉴别诊断肌酸激酶反复升高的年轻病例很重要。
