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).

Descriptor ID	D007888
MeSH 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
Concept/Terms	Leigh Disease Leigh Disease Leigh's Disease Disease, Leigh's Leighs Disease Encephalomyelitis, Subacute Necrotizing Encephalomyelitides, Subacute Necrotizing Necrotizing Encephalomyelitides, Subacute Necrotizing Encephalomyelitis, Subacute Subacute Necrotizing Encephalomyelitides Subacute Necrotizing Encephalomyelitis Encephalopathy, Subacute Necrotizing Encephalopathies, Subacute Necrotizing Necrotizing Encephalopathies, Subacute Necrotizing Encephalopathy, Subacute Subacute Necrotizing Encephalopathies Encephalomyelopathy, Subacute Necrotizing Encephalomyelopathies, Subacute Necrotizing Necrotizing Encephalomyelopathies, Subacute Necrotizing Encephalomyelopathy, Subacute Subacute Necrotizing Encephalomyelopathies Subacute Necrotizing Encephalomyelopathy Leigh Syndrome Subacute Necrotizing Encephalopathy Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Infantile Subacute Necrotizing Encephalomyelitis, Infantile Infantile Subacute Necrotizing Encephalopathy Infantile Leigh Disease Leigh Disease, Infantile Subacute Necrotizing Encephalopathy, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Encephalopathy, Subacute Necrotizing, Juvenile Juvenile Subacute Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy, Juvenile Juvenile Leigh Disease Leigh Disease, Juvenile

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