Leigh Disease [Leighova nemoc]
- Terms
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juvenilní subakutní nekrotizující encefalopatie
Leighova choroba
Leighův syndrom
subakutní nekrotizující encefalomyopatie
subakutní nekrotizující encefalopatie u kojenců
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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
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).
- DUI
- D007888 MeSH Browser
- CUI
- M0012315
- Previous indexing
- Brain Diseases (1966-1984); Encephalomalacia (1966-1984); Pyruvate Carboxylase/deficiency (1975-1984)
- History note
- 1991(1985)
- Public note
- 1991; see BRAIN DISEASES, METABOLIC 1985-1990
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- CI
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- DT
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- EN
- enzymology 3
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- ET
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- GE
- genetics 18
- HI
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- IM
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- ME
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- PA
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- PP
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- TH
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- UR
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