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Lesch-Nyhan syndrome


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Lesch-Nyhan syndrome

Symptoms:

  • family history of Lesch-Nyhan syndrome
  • male infant with delayed motor development
  • movement disorder
  • destructive chewing of fingers or lips (self-destructive behavior)

Signs and tests:

A physical examination and testing may show:

  • hyperreflexia
  • spasticity
  • choreoathetoid movements
  • compulsive self-destructive behavior
  • increased serum uric acid
  • increase excretion of uric acid, urine
  • decreased HGP levels in cultured fibroblasts
Tests:


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