"Leigh Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
Descriptor ID |
D007888
|
MeSH Number(s) |
C10.228.140.163.100.412 C16.320.565.189.412 C16.320.565.202.810.444 C18.452.132.100.412 C18.452.648.189.412 C18.452.648.202.810.444 C18.452.660.520
|
Concept/Terms |
Leigh Disease- Leigh Disease
- Encephalomyelopathy, Subacute Necrotizing
- Encephalomyelopathies, Subacute Necrotizing
- Necrotizing Encephalomyelopathies, Subacute
- Necrotizing Encephalomyelopathy, Subacute
- Subacute Necrotizing Encephalomyelopathies
- Subacute Necrotizing Encephalomyelopathy
- Leigh Syndrome
- Leigh's Disease
- Disease, Leigh's
- Leighs Disease
- Subacute Necrotizing Encephalopathy
- Encephalomyelitis, Subacute Necrotizing
- Encephalomyelitides, Subacute Necrotizing
- Necrotizing Encephalomyelitides, Subacute
- Necrotizing Encephalomyelitis, Subacute
- Subacute Necrotizing Encephalomyelitides
- Subacute Necrotizing Encephalomyelitis
- Encephalopathy, Subacute Necrotizing
- Encephalopathies, Subacute Necrotizing
- Necrotizing Encephalopathies, Subacute
- Necrotizing Encephalopathy, Subacute
- Subacute Necrotizing Encephalopathies
Encephalopathy, Subacute Necrotizing, Infantile- Encephalopathy, Subacute Necrotizing, Infantile
- Subacute Necrotizing Encephalopathy, Infantile
- Leigh Disease, Infantile
- Subacute Necrotizing Encephalomyelitis, Infantile
- Infantile Leigh Disease
- Infantile Subacute Necrotizing Encephalopathy
|
Below are MeSH descriptors whose meaning is more general than "Leigh Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Leigh Disease [C10.228.140.163.100.412]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Leigh Disease [C16.320.565.189.412]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
- Leigh Disease [C16.320.565.202.810.444]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Leigh Disease [C18.452.132.100.412]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Leigh Disease [C18.452.648.189.412]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Pyruvate Metabolism, Inborn Errors [C18.452.648.202.810]
- Leigh Disease [C18.452.648.202.810.444]
- Mitochondrial Diseases [C18.452.660]
- Leigh Disease [C18.452.660.520]
Below are MeSH descriptors whose meaning is more specific than "Leigh Disease".
This graph shows the total number of publications written about "Leigh Disease" by people in this website by year, and whether "Leigh Disease" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Leigh Disease" by people in Profiles.
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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):98-106.