Počet záznamov: 1
Leighov syndróm
Č. záznamu d007888 Dátum 06.06.2025 Typ M - MESH Tematický termín Leighov syndróm Iný termín Angličtina (Pseudonym) Encephalomyelitis, Subacute Necrotizing
Angličtina (Pseudonym) Encephalopathy, Subacute Necrotizing
Slovenčina (Pseudonym) encefalomyelopatia subakútna nekrotizujúca
Slovenčina (Pseudonym) encefalomyelitída subakútna nekrotizujúca
Slovenčina (Pseudonym) encefalopatia subakútna nekrotizujúca
Pozri tiež (Skutočné meno) choroba z deficitu pyruvátdehydrogenázového komplexu
(Skutočné meno) deficit cytochróm-c oxidázy
(Novšie záhlavie) choroba z deficitu pyruvátdehydrogenázového komplexu
MDT 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 Poznámka 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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Počet záznamov: 1