Miyajima H, Takahashi Y, Kaneko E
First Department of Medicine, Hamamatsu University School of Medicine, Japan.
Muscle Nerve. 1995 Aug;18(8):874-8. doi: 10.1002/mus.880180812.
Recurrent rhabdomyolysis due to decreased glycolysis occurred during strenuous exercise by patients with lactate dehydrogenase-A subunit (LDH-A; muscle) deficiency. We report the glycolytic features of 4 patients from 2 families in whom the severity of the disease differed. There was no difference in the gene abnormality. The enzyme activity of LDH in the muscle was less than 5% that of the control value. Glycolysis in the muscle showed that the respective sums of the pyruvate and lactate levels in the patients with mild and severe symptoms were reduced to approximately 65% and 35% that of the control value. Comparable amounts of glycerol 3-phosphate were produced. Glycerol 3-phosphate dehydrogenase activity in the muscles of patients with mild symptoms was three times the control value. These findings suggest that the disease severity in our patients may be related to the degree of NADH reoxidation by glycerol 3-phosphate dehydrogenase substituting for LDH.
乳酸脱氢酶 - A亚基（LDH - A；肌肉型）缺乏的患者在剧烈运动期间会因糖酵解减少而发生复发性横纹肌溶解症。我们报告了来自2个家庭的4名患者的糖酵解特征，这些患者的疾病严重程度有所不同。基因异常方面没有差异。肌肉中LDH的酶活性低于对照值的5%。肌肉中的糖酵解显示，症状较轻和较重的患者中丙酮酸和乳酸水平的总和分别降至对照值的约65%和35%。产生了相当数量的3 - 磷酸甘油。症状较轻患者肌肉中的3 - 磷酸甘油脱氢酶活性是对照值的三倍。这些发现表明，我们患者的疾病严重程度可能与3 - 磷酸甘油脱氢酶替代LDH进行NADH再氧化的程度有关。
