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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

Terme préférentiel

Leigh Disease  

Type

  • mesh:Descriptor

Définition

  • 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).

Concept générique

Concepts associés

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Leigh

    français

  • 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

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RDF/XML TURTLE JSON-LD Date de création 06/04/1984, dernière modification le 08/07/2013