Search on: LEIGH DISEASE 
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Descriptor English:   Leigh Disease 
Descriptor Spanish:   Enfermedad de Leigh 
Descriptor Portuguese:   Doença de Leigh 
Synonyms English:   Encephalomyelopathy, 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
Disease, Leigh's
Encephalomyelitides, Subacute Necrotizing
Encephalomyelopathies, Subacute Necrotizing
Encephalopathies, Subacute Necrotizing
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 Encephalopathies
Encephalomyelitis, Subacute Necrotizing
Encephalopathy, Subacute Necrotizing  
Tree Number:   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
Definition English:   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). 
See Related English:   Cytochrome-c Oxidase Deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease
 
History Note English:   1991(1985) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   24225 
Unique Identifier:   D007888 

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