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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lesch-Nyhan Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lesch-Nyhan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lesch-Nyhan Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lesch-Nyhan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Lesch-Nyhan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Lesch-Nyhan Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Lesch-Nyhan Syndrome

Término preferido

Lesch-Nyhan Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
  • Choreoathetosis Self-Mutilation Syndrome
  • Complete HGPRT Deficiency Disease
  • Complete HPRT Deficiency
  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
  • Deficiency Disease, Complete HGPRT
  • Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase
  • Deficiency of Guanine Phosphoribosyltransferase
  • Deficiency of Hypoxanthine Phosphoribosyltransferase
  • HGPRT Deficiency
  • HGPRT Deficiency Disease, Complete
  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
  • Hypoxanthine Phosphoribosyltransferase Deficiency
  • Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
  • Juvenile Hyperuricemia Syndrome
  • Lesch-Nyhan Disease
  • Primary Hyperuricemia Syndrome
  • Total HPRT Deficiency
  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
  • X-Linked Hyperuricemia
  • X-Linked Primary Hyperuricemia

En otras lenguas

  • Syndrome de Lesch-Nyhan

    francés

  • Déficit complet en HGPRT
  • Déficit en hypoxanthine guanine phosphoribosyltransférase
  • Déficit en hypoxanthine-guanine-phosphoribosyl-transférase
  • Maladie de Lesch-Nyhan

URI

http://data.loterre.fr/ark:/67375/JVR-NRL7WKVS-9

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