Schröder J M, Dodel R, Weis J, Stefanidis I, Reichmann H
Institut für Neuropathologie, Julius Maximilians-Universität Würzburg, Germany.
Clin Neuropathol. 1996 Jan-Feb;15(1):34-40.
X-linked phosphoglycerate kinase (PGK) deficiency is a rare disorder which affects the glycolytic pathway and leads to reduced ATP production. Clinically, PGK deficiency is often associated with nonspherocytic hemolytic anemia and symptoms caused by disturbances of the central nervous system. In addition, myopathy characterized by weakness, cramps, intolerance to exercise, and myoglobinuria has been described in a few cases. We here report on a 23-year-old man who presented with episodes of muscular weakness, cramps, rhabdomyolysis, and renal failure induced by intensive physical exercise. Biochemical analysis of muscle specimens disclosed markedly reduced PGK activity (11.5% compared to normal controls). A moderate increase of glycogen was seen in numerous muscle fibers. Mitochondria in muscle fibers and endothelial cells showed accumulations of glycogen. In muscle fibers unusually large matrix granules were present in several mitochondria. A sural nerve biopsy disclosed scattered large hypomyelinated axons without evidence of demyelination and remyelination. These findings indicate involvement of mitochondria in this case of symptomatic PGK deficiency.
X连锁磷酸甘油酸激酶（PGK）缺乏症是一种罕见的疾病，它影响糖酵解途径并导致ATP生成减少。临床上，PGK缺乏症常与非球形红细胞溶血性贫血以及中枢神经系统紊乱引起的症状相关。此外，少数病例中还描述了以肌无力、痉挛、运动不耐受和肌红蛋白尿为特征的肌病。我们在此报告一名23岁男性，他在剧烈体育锻炼后出现肌无力、痉挛、横纹肌溶解和肾衰竭发作。肌肉标本的生化分析显示PGK活性显著降低（与正常对照相比为11.5%）。在许多肌纤维中可见糖原适度增加。肌纤维和内皮细胞中的线粒体显示有糖原积聚。在肌纤维中，几个线粒体中存在异常大的基质颗粒。腓肠神经活检显示散在的大的髓鞘发育不良轴突，无脱髓鞘和再髓鞘形成的证据。这些发现表明线粒体参与了这例有症状的PGK缺乏症。
