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Lesch-Nyhan disease is a rare genetic disorder caused by the deficiency of a specific enzyme responsible for recycling purines. The lack of purine recycling produces abnormally high levels of uric acid and can affect the kidneys, joints, and development.
Symptoms appear between 3 to 6 months from birth. It mostly affects males and rarely affects females.
Treatment is aimed at easing symptoms of Lesch-Nyhan disease.
The latest on our research
We are jumpstarting our Lesch-Nyhan disease program to accelerate research for the condition. We welcome all patients and caregivers interested in participating and spreading the word to the Lesch-Nyhan disease community.