History


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.

The first page of the original publication by Lesch and Nyhan in 1964
The first page of the original publication by Lesch and Nyhan in 1964


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