Conference Notes - Dr Nyhan

Posted by on September 22, 2013 at 10:25 AM

Dr William Nyhan, the discoverer of Lesch-Nyhan participted in the conference on Friday, Aug 23, 2013.

He informed us of an upcoming trip he is taking to Italy where he will be attending a conference regarding a medicine that may help with some of the purine salvage with LNS. It is a medicine that they are currently testing on cancer patients and Dr Nyhan hopes that it can be helpful for LNS patients as well.

He discussed the compications with finding the right dosage of allopurinol. Higher dosages seem to cause xanthine and hypoxanthine stones n the kidneys while low doses seem to allow the uric acid to build up and cause kidney stones. He said that the best way to address this issue is to monitor the dosage frequently by taking a blood test to check the uric acid levels. The most important time to check frequently is upon initial use of allopurinol. The first six months to a year is invaluable at finding the right dosage for your child. 

Dr Nyhan was extremely gracious and welcomes families to contact him with any questions or concerns about LNS. He can be reached at the Univeristy of San Diego. He can be contacted via email at, by phone at 619-543-5260 or 619-543-5237

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