Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Leigh Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Leigh Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Leigh Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Leigh Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Leigh Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Leigh Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Pyruvate Metabolism, Inborn Errors > Leigh Disease

Término preferido

Leigh Disease  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • 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).

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Encephalomyelitis, Subacute Necrotizing
  • Encephalomyelopathy, Subacute Necrotizing
  • Encephalopathy, Subacute Necrotizing
  • Leigh Syndrome
  • Leigh's Disease
  • Subacute Necrotizing Encephalomyelopathy
  • Subacute Necrotizing Encephalopathy

En otras lenguas

  • Maladie de Leigh

    francés

  • Encéphalo-myélopathie nécrosante subaiguë
  • Encéphalo-myélopathie nécrosante subaigüe
  • Encéphalomyélopathie nécrosante subaiguë
  • Encéphalomyélopathie nécrosante subaigüe
  • Encéphalopathie nécrosante subaiguë
  • Encéphalopathie nécrosante subaigüe
  • Encéphalopathie subaiguë nécrosante
  • Encéphalopathie subaigüe nécrosante

URI

http://data.loterre.fr/ark:/67375/JVR-N78C0W1D-7

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 6/4/84, última modificación 8/7/13