Robinson B H, Taylor J, Francois B, Beaudet A L, Peterson D F
Eur J Pediatr. 1983 Apr;140(2):98-101. doi: 10.1007/BF00441651.
Two patients, one dying at 25 days and one at 20 months had 'chronic' lactic acidaemia with a high lactate to pyruvate ratio. Both showed EEG abnormalities and seizure activity and both died of respiratory failure. Investigation of cultured skin fibroblasts from these patients revealed normal pyruvate dehydrogenase and pyruvate carboxylase activities but the cells showed a decreased ability to oxidase pyruvate which was returned to normal on the addition of methylene blue. Subsequent investigations revealed that the mitochondria from the patients' cells could oxidase pyruvate normally but that the cells had an abnormal NAD to NADH ratio under standard conditions of incubation. It was concluded that both children had a redox disequilibrium in the cytoplasmic compartment due to a problem in transporting reducing equivalents from the cytoplasmic to the mitochondrial compartments.
两名患者，一名在25天时死亡，另一名在20个月时死亡，患有“慢性”乳酸血症，乳酸与丙酮酸比值较高。两人均出现脑电图异常和癫痫活动，均死于呼吸衰竭。对这些患者培养的皮肤成纤维细胞进行的研究显示，丙酮酸脱氢酶和丙酮酸羧化酶活性正常，但细胞氧化丙酮酸的能力下降，添加亚甲蓝后恢复正常。随后的研究表明，患者细胞中的线粒体能够正常氧化丙酮酸，但在标准孵育条件下，细胞的NAD与NADH比值异常。得出的结论是，由于从细胞质向线粒体转运还原当量存在问题，两名儿童的细胞质区室均存在氧化还原失衡。
