MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

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]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - 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]
        
        Pyruvate Carboxylase Deficiency Disease [C16.320.565.202.810.666]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.202.810.766]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - 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]
        
        Pyruvate Carboxylase Deficiency Disease [C18.452.648.202.810.666]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.202.810.766]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Mitochondrial Diseases [C18.452.660]

Leigh Disease Preferred

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).
Terms: Leigh Disease Preferred Term
Term UI T023525
Date01/01/1999
LexicalTag EPO
ThesaurusID; Encephalomyelitis, Subacute Necrotizing
Term UI T368893
Date11/04/1999
LexicalTag NON
ThesaurusID NLM (2000); Encephalomyelopathy, Subacute Necrotizing
Term UI T023524
Date04/06/1984
LexicalTag NON
ThesaurusID UNK (19XX); Encephalopathy, Subacute Necrotizing
Term UI T373333
Date11/04/1999
LexicalTag NON
ThesaurusID NLM (2000); Leigh Syndrome
Term UI T368905
Date11/04/1999
LexicalTag EPO
ThesaurusID; Leigh's Disease
Term UI T368906
Date11/04/1999
LexicalTag EPO
ThesaurusID; Subacute Necrotizing Encephalopathy
Term UI T368907
Date11/04/1999
LexicalTag NON
ThesaurusID; Subacute Necrotizing Encephalomyelopathy
Term UI T841894
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Encephalopathy, Subacute Necrotizing, Infantile Narrower

Encephalopathy, Subacute Necrotizing, Juvenile Narrower

Leigh Disease MeSH Descriptor Data 2024