Leigh syndrome | 食品添加物合法業者資訊網

由NJLake著作·2016·被引用372次—Leighsyndromeisthemostcommonpediatricpresentationofmitochondrialdisease.Thisneurodegenerativedisorderisgeneticallyheterogeneous,andtodate ...

Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made in understanding its etiological basis. We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide clues for diagnosis. We discuss the emergence of genotype-phenotype correlations, insights gleaned into the molecular basis of disease, and available therapeutic options.