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Disease Leigh Disease

Name Leigh Disease
Synonyms Disease, Leigh's | Encephalomyelitides, Subacute Necrotizing | Encephalomyelitis, Subacute Necrotizing | Encephalomyelopathies, Subacute Necrotizing | Encephalomyelopathy, Subacute Necrotizing | Encephalopathies, Subacute Necrotizing | Encephalopathy, 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 | Leigh's Disease | Leighs Disease | Leigh Syndrome | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED | LS | Necrotizing Encephalomyelitides, Subacute | Necrotizing Encephalomyelitis, Subacute | Necrotizing Encephalomyelopathies, Subacute | Necrotizing Encephalomyelopathy, Subacute | Necrotizing Encephalopathies, Subacute | NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH;SNE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED | Necrotizing Encephalopathy, Subacute | Subacute Necrotizing Encephalomyelitides | Subacute Necrotizing Encephalomyelitis | Subacute Necrotizing Encephalomyelitis, Infantile | Subacute Necrotizing Encephalomyelopathies | Subacute Necrotizing Encephalomyelopathy | Subacute Necrotizing Encephalopathies | Subacute Necrotizing Encephalopathy | Subacute Necrotizing Encephalopathy, Infantile | Subacute Necrotizing Encephalopathy, Juvenile
Definition 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).
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D007888
OMIM® ID 256000
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Pyruvate Metabolism, Inborn Errors Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Leigh Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Leigh Disease Has associated chemicals Has associated genes
  3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME Has associated chemicals Has associated genes
  CoQ-responsive OXPHOS deficiency
  Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
  Leigh Syndrome Due To Mitochondrial Complex I Deficiency
  Leigh Syndrome Due To Mitochondrial Complex II Deficiency
  Leigh Syndrome due to Mitochondrial Complex III Deficiency
  Leigh Syndrome due to Mitochondrial Complex IV Deficiency
  Leigh Syndrome due to Mitochondrial Complex V Deficiency
  Leigh syndrome , French Canadian type Has associated chemicals Has associated genes
  Leigh Syndrome, X-Linked
  Maternally Inherited Leigh Syndrome Has associated chemicals Has associated genes
  MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY Has associated chemicals Has associated genes
  Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
  Necrotizing encephalopathy, infantile subacute, of Leigh