Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.

Abstract 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.