Lesch-Nyhan syndrome
Deficiency of hypoxanthine-guanine phosphoribosyl transferase(HPRT)
Age of presentation- 6 months
Symptoms:
Self mutilation
Neurologic( dystonia, mental retardation, spasticity, choreoathetosis)
Gout( arthritis, high uric acid, tophus)
Management: Hydration and allopurinol.
