Tulinius M H, Holme E, Kristiansson B, Larsson N G, Oldfors A
Department of Pediatrics, University of Göteborg, Ostra Hospital, Sweden.
J Pediatr. 1991 Aug;119(2):242-50. doi: 10.1016/s0022-3476(05)80734-6.
During a 4-year period (1984 to 1988), 50 children referred with manifestations of central nervous system or neuromuscular disease combined with hyperlactatemia were subjected to investigations that aimed to identify and characterize children with mitochondrial disorders. Biochemical and morphologic investigations of quadriceps muscle biopsy tissue were done, including oximetric and spectrophotometric analysis of the respiratory chain function, enzyme histochemistry, electron microscopy, and analysis of mitochondrial DNA. A diagnosis of mitochondrial disease was based on the presence of at least two of five criteria: (1) abnormal results of oximetry, (2) abnormal results of spectrophotometry, (3) enzyme histochemical evidence of cytochrome x oxidase deficiency, (4) deletions or point mutations of mitochondrial DNA, and (5) abundant ultrastructurally abnormal mitochondria. With the combined biochemical and morphologic investigation, 20 of the children were found to have mitochondrial disorders. In an additional 10 children a mitochondrial disorder was neither excluded nor verified. Mitochondrial disorders are thus an important cause of central nervous system and neuromuscular disease in children with hyperlactatemia.
在1984年至1988年的4年期间，对50名因中枢神经系统或神经肌肉疾病合并高乳酸血症前来就诊的儿童进行了调查，旨在识别和描述患有线粒体疾病的儿童。对股四头肌活检组织进行了生化和形态学检查，包括呼吸链功能的血氧测定和分光光度分析、酶组织化学、电子显微镜检查以及线粒体DNA分析。线粒体疾病的诊断基于以下五项标准中至少两项：（1）血氧测定结果异常；（2）分光光度测定结果异常；（3）细胞色素c氧化酶缺乏的酶组织化学证据；（4）线粒体DNA的缺失或点突变；（5）超微结构异常的线粒体数量丰富。通过生化和形态学联合检查，发现20名儿童患有线粒体疾病。另有10名儿童既未排除也未证实有线粒体疾病。因此，线粒体疾病是高乳酸血症儿童中枢神经系统和神经肌肉疾病的重要病因。
