Leigh Syndrome (LS)

Leigh Syndrome(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
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leigh Syndrome, also known as leigh disease, is related to mitochondrial complex iv deficiency, nuclear type 5 and mitochondrial dna-associated leigh syndrome, and has symptoms including ataxia, muscle spasticity and ophthalmoplegia. An important gene associated with Leigh Syndrome is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Cysteamine and Ubidecarenone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are abnormality of movement and increased serum lactate
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相关ID:
MESH:D007888
ICD11:672871576

基础信息

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参考文献
MALACARDS
AR
XL
Mit
XLD
All ages
1-9/100000
191
856
237

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