Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K
Eur J Pediatr. 1985 Mar;143(4):278-83. doi: 10.1007/BF00442301.
An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis. In three of these patients a diagnosis of Leigh's encephalomyelopathy was established from autopsy findings. Pyruvate decarboxylase (PDC) deficiency was found in four patients. In two of them, in whom Leigh's encephalomyelopathy was proved by autopsy, PDC activity was lower than 10% of the normal. The other two living patients, who showed 22%-25% of the normal activity, had clinical symptoms and courses different from Leigh's disease. These findings suggest that the patients with severe PDC deficiency develop Leigh's disease but those with mild deficiency may not. A deficiency of cytochrome c oxidase was found in two siblings. One of them, who was diagnosed as having Leigh's encephalomyelopathy by postmortem examination, showed a reduction of cytochrome c oxidase in the liver and brain. In the other sibling, who is living, the reduction of cytochrome c oxidase was demonstrated in the cultured skin fibroblasts and biopsied muscle. In an electron-microscopic study of biopsied muscle, two patients with mitochondrial myopathy were found. Their fundamental enzymatic defects were unclear. In two patients, in whom Leigh's disease was suspected following a brain CT, the production of 14CO2 from [3-14C] pyruvate was found to be low; suggesting a reduced activity of the TCA cycle. In another 18 patients, the fundamental defect was not clear.
对28例乳酸酸中毒患者的培养皮肤成纤维细胞进行了酶学研究。其中3例患者经尸检结果确诊为Leigh脑脊髓病。4例患者发现丙酮酸脱羧酶（PDC）缺乏。其中2例经尸检证实患有Leigh脑脊髓病，其PDC活性低于正常水平的10%。另外2例存活患者的PDC活性为正常水平的22%-25%，其临床症状和病程与Leigh病不同。这些发现表明，严重PDC缺乏的患者会患Leigh病，而轻度缺乏的患者可能不会。在一对兄弟姐妹中发现细胞色素c氧化酶缺乏。其中1例经死后检查诊断为Leigh脑脊髓病，其肝脏和大脑中的细胞色素c氧化酶减少。另1例存活的兄弟姐妹，其培养的皮肤成纤维细胞和活检肌肉中显示细胞色素c氧化酶减少。在对活检肌肉的电子显微镜研究中，发现2例线粒体肌病患者。其基本酶缺陷尚不清楚。在2例经脑部CT检查怀疑患有Leigh病的患者中，发现[3-14C]丙酮酸生成14CO2的量较低，提示三羧酸循环活性降低。在另外18例患者中，基本缺陷尚不清楚。
