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Lesch-Nyhan Syndrome
Definition: 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)

Synonym(s): Choreoathetosis Self-Mutilation Hyperuricemia Syndrome / Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease / Complete HGPRT Deficiency Disease / Deficiency Disease, Complete HGPRT / Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase / HGPRT Deficiency Disease, Complete / Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency / Lesch-Nyhan Disease / Choreoathetosis Self Mutilation Hyperuricemia Syndrome / Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase / Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase / Hypoxanthine Phosphoribosyl Transferase Deficiency Disease / Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases / Lesch Nyhan Disease / Lesch Nyhan Syndrome
See also:
Hypoxanthine Phosphoribosyltransferase   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid, a nitrogen-containing compound found in blood and urine. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), kidney stones, and bladder stones. Problems with the nervous system and behavioral disturbances are also characteristic of this disorder. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed by people affected with this disorder. Self-injury, including biting and he ...

How common is Lesch-Nyhan syndrome?
The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.


More information from the Genetics Home Reference Website
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  Web resources for "Lesch-Nyhan Syndrome"
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view the robot description of the site Lesch-Nyhan syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the robot description of the site Orphanet Journal of Rare Diseases | Full text | Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan Syndromewww.ojrd.com  
view the HON description of the site HONcode - Lesch-Nyhan syndrome - Genetics Home Referenceghr.nlm.nih.gov 6
view the robot description of the site Lesch-Nyhan Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Lesch-Nyhan syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the robot description of the site Whonamedit - Lesch-Nyhan syndrome or diseasewww.whonamedit.com  
view the HON description of the site HONcode - Orphanet: Lesch Nyhan syndromewww.orpha.net  
 
 

See also: - Hypoxanthine Phosphoribosyltransferase

Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Neurodegenerative Diseases - Mental Retardation, X-Linked - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Broader term(s): - Nervous System Diseases
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Broader term(s): - Nervous System Diseases - Mental Retardation

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  Scientific articles from MEDLINE for "Lesch-Nyhan Syndrome"
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Broader term(s): - Neurodegenerative Diseases

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  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Purine-Pyrimidine Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Purine-Pyrimidine Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
                  Heredodegenerative Disorders, Nervous System
                      Mental Retardation, X-Linked 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Heredodegenerative Disorders, Nervous System 
                  Genetic Diseases, X-Linked
                      Mental Retardation, X-Linked 
      Diseases
          Nervous System Diseases
              Neurologic Manifestations
                  Neurobehavioral Manifestations
                      Mental Retardation
                          Mental Retardation, X-Linked 
              Neurodegenerative Diseases
                  Heredodegenerative Disorders, Nervous System 
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn 

MeSH 2010 © U.S. National Library of Medicine®.

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