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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Leigh Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Leigh Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Leigh Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Leigh Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Leigh Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Leigh Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Leigh Disease

Preferred term

Leigh Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Disease, Leigh's
  • Encephalomyelitides, Subacute Necrotizing
  • Encephalomyelitis, Subacute Necrotizing
  • Encephalomyelopathies, Subacute Necrotizing
  • Encephalomyelopathy, Subacute Necrotizing
  • Encephalopathies, Subacute Necrotizing
  • Encephalopathy, Subacute Necrotizing
  • Leigh's Disease
  • Leighs Disease
  • Leigh Syndrome
  • 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 Encephalomyelopathy
  • Subacute Necrotizing Encephalopathies
  • Subacute Necrotizing Encephalopathy

Scope note

  • 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).

History note

  • 1991(1985)

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URI

http://www.yso.fi/onto/mesh/D007888

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