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Leigh Disease MeSH Descriptor Data 2023


MeSH Heading
Leigh Disease
Tree 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
Unique ID
D007888
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D007888
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).
Entry Version
LEIGH DIS
Entry Term(s)
Encephalomyelitis, Subacute Necrotizing
Encephalomyelopathy, 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 Syndrome
Leigh's Disease
Subacute Necrotizing Encephalomyelitis, Infantile
Subacute Necrotizing Encephalomyelopathy
Subacute Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy, Infantile
Subacute Necrotizing Encephalopathy, Juvenile
Previous Indexing
Brain Diseases (1966-1984)
Encephalomalacia (1966-1984)
Pyruvate Carboxylase/deficiency (1975-1984)
See Also
Cytochrome-c Oxidase Deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease
Public MeSH Note
1991; see BRAIN DISEASES, METABOLIC 1985-1990
History Note
1991(1985)
Date Established
1991/01/01
Date of Entry
1984/04/06
Revision Date
2013/07/08
Leigh Disease Preferred
Encephalopathy, Subacute Necrotizing, Juvenile Narrower
Encephalopathy, Subacute Necrotizing, Infantile Narrower
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