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 mutatio...

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Bibliographic Details
Published inZhongguo dang dai er ke za zhi Vol. 11; no. 5; p. 333
Main Authors Wei, Xiao-Qiong, Kong, Qing-Peng, Zhang, Yao, Yang, Yan-Ling, Chang, Xing-Zhi, Qi, Yu, Qi, Zhao-Yue, Xiao, Jiang-Xi, Qin, Jiong, Wu, Xi-Ru
Format Journal Article
LanguageChinese
Published China 01.05.2009
Subjects
Adolescent
DNA, Mitochondrial - genetics
Electron Transport Complex I - deficiency
Humans
Leigh Disease - genetics
Male
Mutation
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Summary: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 subacute loss of vision in two eyes and temporal defect of visual field in the left eye. He walked with a spastic gait. His blood lactate and pyruvate levels were elevated. Muscle biopsy showed mild lipid accumulation in muscle fiber. An electrocardiogram showed incomplete right bundle branch block. Brain magnetic resonance imaging showed bilateral, symmetrical lesions in the basal ganglia, supporting the diagnosis of Leigh syndrome. 13513G>A mutation was identified by gene analysis in the patient, which
ISSN:1008-8830