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Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) Summary

Description: 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)

Also Known As: Choreoathetosis Self Mutilation Hyperuricemia Syndrome; Complete HGPRT Deficiency Disease; Deficiency Disease, Complete HGPRT; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase; HGPRT Deficiency Disease, Complete Show All >>

Networked: 525 relevant articles (12 outcomes, 24 trials/studies) for this Disease

Key Drugs and Agents for Lesch-Nyhan Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase) : 2 outcomes 9 studies in 307 results : IBA
  2. Uric Acid (Urate) : 2 outcomes 2 studies in 29 results : IBA
  3. Neurotransmitter Agents (Neurotransmitter) : 1 outcome 1 study in 10 results : IBA
  4. Levodopa (L Dopa) : 1 outcome in 4 results : FDA 31 Generic
  5. S-Adenosylmethionine (Ademetionine) : 1 outcome in 2 results : IBA
  6. Botulinum Toxins (Botulinum Toxin) : 1 outcome in 2 results : IBA
  7. Clozapine (Clozaril) : 1 outcome in 1 result : FDA 8 Generic
  8. rasburicase (Elitek) : 1 outcome in 1 result : FDA 2
  9. gabapentin (Neurontin) : 1 outcome in 1 result : FDA 37 Generic
  10. Hypoxanthine : 6 studies in 94 results : IBA
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Diseases Related to Lesch-Nyhan Syndrome

  1. Self Mutilation
  2. Hyperuricemia
  3. Mental Retardation (Idiocy)
  4. Nervous System Diseases (Neurological Disorders)
  5. Gouty Arthritis
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Key Therapies for Lesch-Nyhan Syndrome

Efficacy Chart >>
  1. Deep Brain Stimulation : 2 outcomes in 2 results
  2. Anesthesia : 1 study in 2 results
  3. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 3 results
  4. Drug Therapy (Chemotherapy) : 3 results
  5. Investigational Therapies (Experimental Therapy) : 1 result
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