线粒体基因13513G>A突变导致呼吸链酶复合物I缺陷Leigh综合征

Leigh综合征是由于线粒体呼吸链能量代谢障碍所导致的遗传性疾病，呼吸链酶复合物I缺陷是导致Leigh综合征的常见原因之一。该研究通过线粒体基因13513G>A突变分析首次确诊了1例中国人Leigh综合征患者。患儿为第一胎，12岁时出现抽搐，13岁时先后出现双眼视力下降，13岁来院就诊左眼颞侧视野缺损，痉挛步态，血液乳酸、丙酮酸增高，腓肠肌活检肌纤维内脂滴轻度增多；心电图检查显示不完全右束支传导阻滞；脑MRI显示双侧基底节对称性损害，符合Leigh综合征诊断，合并继发性癫癎。经基因分析证实患者存在线粒体基因13513G>A突变，导致线粒体呼吸链酶复合物I活性下降。治疗以多种维生素为主，补充左旋肉碱、辅酶Q10，同时给予卡马西平、苯巴比妥、丙戊酸等抗癫癎治疗。现在患儿16岁，休学，智力无明显倒退，体力、体重显著减退。Leigh综合征病因复杂，临床表现多种多样，该患儿以抽搐起病，合并视力减退，经基因分析明确了病因，有助于相关家庭的遗传咨询 。［中国当代儿科杂志，2009，11（5）：333-336］

A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs' cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study,a Chinese child with Leigh syndrome caused by 13513G>A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized epilepsy at 12 years of age. When he visited Peking University First Hospital at 13 years of age,he had ...