van Erven P M, Gabreëls F J, Ruitenbeek W, Renier W O, Lamers K J, Sloof J L
J Neurol. 1987 May;234(4):215-9. doi: 10.1007/BF00618253.
Four siblings with Leigh's syndrome are described. The diagnosis was confirmed by pathological examination in one case. Chemical and biochemical investigations of serum and urine revealed no abnormalities of pyruvate metabolism, but all patients had marked elevations of CSF pyruvate and lactate concentrations. In three of the siblings, [1-14C]pyruvate oxidation rates were normal in fibroblasts and leucocytes. In one patients, extensive biochemical and histochemical studies of liver and muscle tissue revealed no mitochondrial dysfunction. A defect of oxidative metabolism restricted to brain seems probable.
本文描述了4例患有 Leigh 综合征的兄弟姐妹。其中1例经病理检查确诊。血清和尿液的化学及生化检查未发现丙酮酸代谢异常，但所有患者脑脊液中的丙酮酸和乳酸浓度均显著升高。在3例患者的成纤维细胞和白细胞中，[1-14C]丙酮酸氧化率正常。在1例患者中，对肝脏和肌肉组织进行的广泛生化和组织化学研究未发现线粒体功能障碍。看来可能存在仅限于脑部的氧化代谢缺陷。
