Leigh Disease

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Also Known As:

Leigh's Disease; Leigh Syndrome; Subacute Necrotizing Encephalomyelopathy; Subacute Necrotizing Encephalopathy; Encephalomyelopathy, Subacute Necrotizing; Encephalopathy, Subacute Necrotizing, Infantile; Encephalopathy, Subacute Necrotizing, Juvenile; Infantile Leigh Disease; Infantile Subacute Necrotizing Encephalopathy; Juvenile Leigh Disease; Juvenile Subacute Necrotizing Encephalopathy; Leigh Disease, Infantile; Leigh Disease, Juvenile; Subacute Necrotizing Encephalomyelitis, Infantile; Subacute Necrotizing Encephalopathy, Infantile; Subacute Necrotizing Encephalopathy, Juvenile; Disease, Leigh's; Encephalomyelitides, Subacute Necrotizing; Encephalomyelopathies, Subacute Necrotizing; Encephalopathies, Subacute Necrotizing; Leighs Disease; Necrotizing Encephalomyelitides, Subacute; Necrotizing Encephalomyelitis, Subacute; Necrotizing Encephalomyelopathies, Subacute; Necrotizing Encephalomyelopathy, Subacute; Necrotizing Encephalopathies, Subacute; Necrotizing Encephalopathy, Subacute; Subacute Necrotizing Encephalomyelitides; Subacute Necrotizing Encephalomyelitis; Subacute Necrotizing Encephalomyelopathies; Subacute Necrotizing Encephalopathies; Encephalomyelitis, Subacute Necrotizing; Encephalopathy, Subacute Necrotizing

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Leigh Disease: 601
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Leigh Disease: 601
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Leigh Disease: 601
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Leigh Disease: 601
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Leigh Disease: 601
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Leigh Disease: 601
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Leigh Disease: 601

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Drug/Important Bio-Agent (IBA)