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中文Leigh Syndrome (LS)
Alias:
Leigh Disease
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency
Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due to Mitochondrial Complex I Deficiency
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency
Necrotizing Encephalopathy, Infantile Subacute, of Leigh
Leigh Syndrome Due to Mitochondrial Complex V Deficiency
Subacute Necrotizing Encephalomyelopathy
Sne
Ls
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency
Necrotizing Encephalopathy Infantile Subacute of Leigh
Juvenile Subacute Necrotizing Encephalomyelopathy
Encephalopathy, Subacute Necrotizing, Infantile
Necrotizing Encephalopathy, Infantile Subacute
Encephalopathy, Subacute Necrotizing, Juvenile
Juvenile Subacute Necrotizing Encephalopathy
Infantile Necrotizing Encephalomyelopathy
Subacute Necrotising Encephalomyelopathy
Maternally Inherited Leigh Syndrome
Subacute Necrotising Encephalopathy
Leigh's Disease
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莱利综合症，也称为莱利病，与线粒体复合体IV缺陷、核型5和线粒体DNA相关的莱利综合症有关，症状包括共济失调、肌肉痉挛和眼肌麻痹。与莱利综合症有关的重要基因是SDHA（琥珀酸脱氢酶复合物黄素蛋白亚基），其相关通路/超级通路包括代谢和呼吸电子传递、化学耦合ATP合成和热能产生通过解耦联蛋白。在该疾病的背景下，已提到的药物包括半胱氨酸和尿嘧啶酮。附属组织包括脊髓和眼睛，相关表型为运动异常和血清乳酸增加。
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MALACARDS
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