Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study
Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study
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DOI：
10.1016/j.ymgme.2014.04.008
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发表时间：
2014-06-01
影响因子：
3.8
通讯作者：
Kumada, Tomohiro
中科院分区：
文献类型：
--
作者：
Fujii, Tatsuya;Nozaki, Fumihito;Kumada, Tomohiro
背景：氧化磷酸化障碍（OXPHOS）导致NADH/NAD（+）比值增加，从而损害糖酵解途径。用丙酮酸盐处理预期会降低该比率，从而恢复糖酵解。有一些关于丙酮酸盐治疗线粒体疾病的疗效的病例报告。然而，很少有这些报告评估他们的结果使用一个标准化的scale.Methods：我们监测4卧床不起的患者OXPHOS疾病谁继续治疗的0.5-1.0克/公斤/天的丙酮酸钠超过12个月。采用纽卡斯尔儿童线粒体疾病量表和粗大运动功能评定量表（88项）评价治疗效果。在4例患者中，3例在治疗开始后1-3个月内表现出改善。3例患者中1例持续改善2年以上。其余2例在治疗开始后3-6个月消退。血液乳酸/丙酮酸的比例没有相关的疗效treatment.Conclusion：丙酮酸是有效的，即使在卧床不起的患者OXPHOS障碍，至少在短期内。有必要对更多患者和不太严重的残疾进行临床试验，以评估这种治疗的长期疗效。需要鉴定乳酸盐和丙酮酸盐以外的生物标志物，以生化监测这种治疗的功效。(C)版权所有© 2014 Elsevier Inc.
Background: Disorders of oxidative phosphorylation (OXPHOS) cause an increase in the NADH/NAD(+) ratio, which impairs the glycolysis pathway. Treatment with pyruvate is expected to decrease the ratio and thereby restore glycolysis. There are some case reports on the efficacy of pyruvate treatment for mitochondrial diseases. However, few of these reports assessed their results using a standardized scale.Methods: We monitored 4 bedridden patients with OXPHOS disorders who continued therapies of 0.5-1.0 g/kg/day of sodium pyruvate for more than 12 months. The efficacies of these treatments were evaluated with the Newcastle Pediatric Mitochondrial Disease Scale and the Gross Motor Function Measure with 88 items.Results: The ages of the patients at the treatment initiation ranged from 8-100 months. Of the 4 patients, 3 exhibited improvements within 1-3 months from the initiation of treatment. Among these 3 patients, one maintained the improvement for over 2 years. The remaining 2 regressed 3-6 months after the initiation of treatment. The blood lactate/pyruvate ratios did not correlate with the efficacy of treatment.Conclusion: Pyruvate was effective even in bedridden patients with OXPHOS disorders, at least in the short term. Clinical trials with more patients and less severe disabilities are necessary to evaluate the long-term efficacy of this treatment. Biomarkers other than lactate and pyruvate need to be identified to biochemically monitor the efficacy of this treatment. (C) 2014 Elsevier Inc All rights reserved.