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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > 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 > 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
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 > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > 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 > Genetic Diseases, X-Linked > 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
... > Nervous System Diseases > 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

Preferred term

Lesch-Nyhan Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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)

History note

  • 1973(1971)

In other languages

URI

http://www.yso.fi/onto/mesh/D007926

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