Two boys with this condition were described first by Michael Lesch and William Nyhan in 1964. Within a few years, many similar children were found. It soon became clear that the condition was only passed to boys within a family. To recognize their important initial description, the condition was named Lesch-Nyhan disease.

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.