Jay Seegmiller and his co-workers uncovered the biochemical roots of the disease in 1967. They showed that boys with Lesch-Nyhan disease had problems with metabolizing purines, an important group of chemicals used everywhere in the body.
The gene responsible for the condition was found by Friedmann and his co-workers in 1985. This was one of the first genes isolated for any human disease. Since its original discovery, a lot has been learned about the disorder and how to manage it. More information on all aspects of Lesch-Nyhan disease can be found in the menus.