Lesch-Nyhan disease (LND) or Lesch-Nyhan Syndrome (LNS) is an X-linked recessive disorder of the purine salvage pathway in which hyperuricemia, is associated with gout and uric acid nephrolithiasis. It is also characterized by cognitive impairment, dystonia and dramatic behavioral manifestations, including the hallmark self-injurious behaviors.
Lesch-Nyhan disease; Lesch-Nyhan Syndrome; Nephrolithiasis; Dystonia