| Descriptor English: | Leigh Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Leigh
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| Descriptor Portuguese: | Doença de Leigh | ||||||
| Descriptor French: | Maladie de Leigh | ||||||
| Entry term(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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| 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 |
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| RDF Unique Identifier: | https://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). |
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| Allowable Qualifiers: |
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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| Previous Indexing: |
Brain Diseases (1966-1984) Encephalomalacia (1966-1984) Pyruvate Carboxylase/deficiency (1975-1984) |
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| Public MeSH Note: | 1991; see BRAIN DISEASES, METABOLIC 1985-1990 |
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| History Note: | 1991(1985) |
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| Entry Version: | LEIGH DIS |
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| Related: |
Cytochrome-c Oxidase Deficiency
MeSH Pyruvate Dehydrogenase Complex Deficiency Disease MeSH | ||||||
| DeCS ID: | 24225 | ||||||
| Unique ID: | D007888 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1984/04/06 | ||||||
| Revision Date: | 2013/07/08 |
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Leigh Disease
- Preferred
Encephalopathy, Subacute Necrotizing, Juvenile
- Narrower
Encephalopathy, Subacute Necrotizing, Infantile
- Narrower
| Concept UI |
M0012315 |
| 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). |
| Preferred term | Leigh Disease |
| Entry term(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 |
| Concept UI |
M0335494 |
| Preferred term | Encephalopathy, Subacute Necrotizing, Juvenile |
| Entry term(s) |
Juvenile Leigh Disease Juvenile Subacute Necrotizing Encephalopathy Leigh Disease, Juvenile Subacute Necrotizing Encephalopathy, Juvenile |
| Concept UI |
M0335493 |
| Preferred term | Encephalopathy, Subacute Necrotizing, Infantile |
| Entry term(s) |
Infantile Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Disease, Infantile Subacute Necrotizing Encephalomyelitis, Infantile Subacute Necrotizing Encephalopathy, Infantile |
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