Minchom P E, Dormer R L, Hughes I A, Stansbie D, Cross A R, Hendry G A, Jones O T, Johnson M A, Sherratt H S, Turnbull D M
J Neurol Sci. 1983 Aug-Sep;60(3):453-63. doi: 10.1016/0022-510x(83)90156-9.
A case of cytochrome c oxidase deficiency primarily affecting skeletal muscle is described. The child was admitted at 4 weeks due to failure to thrive and examination at that time revealed weakness and hypotonia. His condition deteriorated until at 11 weeks respiratory arrest necessitated artificial ventilation and death occurred at 14 weeks. Biochemical investigation showed lactic acidaemia and generalised aminoaciduria. Histochemical examination of muscle obtained at biopsy showed strong reactions for some oxidative enzymes, but by contrast cytochrome c oxidase could not be detected. Cytochrome c oxidase activity was less than 5% of control values in an extract of fresh muscle. The reduced-minus oxidised absorption spectra of muscle mitochondrial fractions prepared from post-mortem tissue showed an absence of cytochrome aa3 and a partial deficiency of cytochrome b. Ultra-structural examination showed abnormal mitochondria with loss of cristae and an abnormal granular matrix. The family history suggests autosomal recessive inheritance.
本文描述了一例主要影响骨骼肌的细胞色素c氧化酶缺乏症病例。该患儿4周时因发育不良入院，当时检查发现肌无力和肌张力减退。其病情逐渐恶化，至11周时呼吸骤停，需进行人工通气，14周时死亡。生化检查显示乳酸血症和全身性氨基酸尿。活检获取的肌肉组织化学检查显示，一些氧化酶反应强烈，但相比之下，未检测到细胞色素c氧化酶。新鲜肌肉提取物中的细胞色素c氧化酶活性低于对照值的5%。死后组织制备的肌肉线粒体组分的还原态减去氧化态吸收光谱显示，缺乏细胞色素aa3，细胞色素b部分缺乏。超微结构检查显示线粒体异常，嵴缺失，基质颗粒异常。家族史提示为常染色体隐性遗传。
