Diagnosis and treatment in the new mitochondrial dysfunction causing to Leigh syndrome

Leigh综合征是一种由线粒体能量产生缺陷引起的神经退行性疾病，通常在婴儿期发病。我们调查了74例日本Leigh综合征患者的丙酮酸代谢缺陷症。发现缺陷37例(50%)，其中PDHC缺陷5例，NADH-细胞色素C还原酶(复合体I)缺陷4例，细胞色素C氧化酶(COX)缺陷4例，线粒体DNA点突变24例。1例患者出现新的线粒体功能障碍，丙酮酸脱羧率降低。

Leigh syndrome is a neurodegenerative disease caused by defects in mitochondrial energy generation with onset typically in infancy. We investigated defects of pyruvate metabolisim in 74 Japanese patients with Leigh syndrome. Defects identified in 37 patients (50%), i.e., PDHC deficiency in 5, NADH-cytochrome c reductase (complex I) deficiency in 4, cytochrome c oxidase (COX) deficiency in 4, and a point mutation of mitochondrial DNA in 24. One patient had the new mitochondrial dysfunction with decreased pyruvate decarboxylation rate.