Diseases

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).

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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).

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MeSH Record

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MeSH Record

Synonyms

33 entry terms
  • Encephalomyelitis, Subacute Necrotizing
  • Encephalomyelopathy, Subacute Necrotizing
  • Encephalopathy, Subacute Necrotizing
  • Leigh Syndrome
  • Leigh's Disease
  • Subacute Necrotizing Encephalomyelopathy
  • Subacute Necrotizing Encephalopathy
  • 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
  • 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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1991(1985)

MeSH Record

Previous Indexing

  • Brain Diseases (1966-1984)
  • Encephalomalacia (1966-1984)
  • Pyruvate Carboxylase/deficiency (1975-1984)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.412w
  2. C16w.320w.565w.189.412w
  3. C16w.320w.565w.202w.810.444w
  4. C18.452w.132.100.412w
  5. C18.452w.648w.189.412w
  6. C18.452w.648w.202w.810.444w
  7. C18.452w.660w.520w

AMA Style

References

  1. National Library of Medicine. Leigh Disease. Medical Subject Headings (MeSH). 2026. Unique ID D007888. http://id.nlm.nih.gov/mesh/2026/D007888
  2. Leigh Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Leigh_syndrome
  3. Leigh Disease. In: Wikidata. https://www.wikidata.org/wiki/Q1815019