Visão selecionada em Inglês
Descritor em português: | Doença de Leigh | ||||||
Descritor em inglês: | Leigh Disease | ||||||
Descritor em espanhol: |
Enfermedad de Leigh
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Descritor em francês: | Maladie de Leigh | ||||||
Termo(s) alternativo(s): |
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 Syndrome Leigh's Disease Leighs Disease Necrotizing Encephalomyelitides, Subacute Necrotizing Encephalomyelitis, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Necrotizing Encephalopathies, Subacute 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 |
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Código(s) hierárquico(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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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D007888 | ||||||
Nota de escopo: | 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). |
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Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Indexação Anterior: |
Brain Diseases (1966-1984) Encephalomalacia (1966-1984) Pyruvate Carboxylase/deficiency (1975-1984) |
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Nota MeSH pública: | 1991; see BRAIN DISEASES, METABOLIC 1985-1990 |
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Nota histórica: | 1991(1985) |
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Versão alternativa: | LEIGH DIS |
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Veja também os descritores: |
Cytochrome-c Oxidase Deficiency
MeSH Pyruvate Dehydrogenase Complex Deficiency Disease MeSH | ||||||
Identificador DeCS: | 24225 | ||||||
ID do descritor: | D007888 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/1991 | ||||||
Data de entrada: | 06/04/1984 | ||||||
Data de revisão: | 08/07/2013 |
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Leigh Disease
- Conceito preferido
Encephalopathy, Subacute Necrotizing, Juvenile
- Mais específico
Encephalopathy, Subacute Necrotizing, Infantile
- Mais específico
Identificador do conceito |
M0012315 |
Nota de escopo | 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). |
Termo preferido | Leigh Disease |
Termo(s) alternativo(s) |
Disease, Leigh's Encephalomyelitides, Subacute Necrotizing Encephalomyelitis, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Necrotizing Encephalopathies, Subacute Necrotizing Encephalopathy, Subacute Necrotizing Leigh Syndrome Leigh's Disease Leighs Disease Necrotizing Encephalomyelitides, Subacute Necrotizing Encephalomyelitis, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Necrotizing Encephalopathies, Subacute Necrotizing Encephalopathy, Subacute Subacute Necrotizing Encephalomyelitides Subacute Necrotizing Encephalomyelitis Subacute Necrotizing Encephalomyelopathies Subacute Necrotizing Encephalomyelopathy Subacute Necrotizing Encephalopathies Subacute Necrotizing Encephalopathy |
Identificador do conceito |
M0335494 |
Termo preferido | Encephalopathy, Subacute Necrotizing, Juvenile |
Termo(s) alternativo(s) |
Juvenile Leigh Disease Juvenile Subacute Necrotizing Encephalopathy Leigh Disease, Juvenile Subacute Necrotizing Encephalopathy, Juvenile |
Identificador do conceito |
M0335493 |
Termo preferido | Encephalopathy, Subacute Necrotizing, Infantile |
Termo(s) alternativo(s) |
Infantile Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Disease, Infantile Subacute Necrotizing Encephalomyelitis, Infantile Subacute Necrotizing Encephalopathy, Infantile |
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