Leigh Syndrome (LS)

Leigh综合征(来自ICD-11)

别称:

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

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

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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