Leigh Disease
"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
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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
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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
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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.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2010 | 0 | 1 | 1 | 2013 | 1 | 0 | 1 | 2015 | 0 | 1 | 1 | 2020 | 1 | 0 | 1 | 2022 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Leigh Disease" by people in Profiles.
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Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loa?c N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012.
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Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 09; 43(5):1024-1036.
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Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79.
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Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion. 2013 Nov; 13(6):656-61.
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Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res. 2010 Aug; 68(2):159-64.
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