Zeviani M, Nonaka I, Bonilla E, Okino E, Moggio M, Jones S, DiMauro S
Ann Neurol. 1985 Apr;17(4):414-7. doi: 10.1002/ana.410170422.
A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.
一名3个月大的女婴患有严重的全身无力、德托尼 - 范科尼 - 德布雷综合征和乳酸性酸中毒。她需要辅助通气，并在8个月大时死亡。肌肉活检显示线粒体、糖原和脂滴积聚。细胞色素c氧化酶的组织化学反应和免疫细胞化学染色结果非常弱，但在肌梭的梭内纤维中这两种反应均正常。在患者肌肉的粗提物中，未检测到细胞色素c氧化酶活性，酶联免疫吸附测定显示在抗血清的所有稀释度下反应均降低。这些数据表明，患有致命性婴儿细胞色素c氧化酶缺乏和肾功能障碍的患者肌肉中免疫反应性酶蛋白的量明显减少。
