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Leighov syndróm
Record number d007888 Date 06.06.2025 Type M - MESH Topical term Leighov syndróm Other term English (Pseudonym) Encephalomyelitis, Subacute Necrotizing
English (Pseudonym) Encephalopathy, Subacute Necrotizing
Slovak (Pseudonym) encefalomyelopatia subakútna nekrotizujúca
Slovak (Pseudonym) encefalomyelitída subakútna nekrotizujúca
Slovak (Pseudonym) encefalopatia subakútna nekrotizujúca
See also (Skutočné meno) choroba z deficitu pyruvátdehydrogenázového komplexu
(Skutočné meno) deficit cytochróm-c oxidázy
(Later heading) choroba z deficitu pyruvátdehydrogenázového komplexu
UDC C10.228.140.163.100.412C16.320.565.189.412C16.320.565.202.810.444C18.452.132.100.412C18.452.648.189.412C18.452.648.202.810.444C18.452.660.520 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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Number of the records: 1