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Rediscovering ADSLD, Recording 3, Dr. Sylvia Sanquer

Updated: Oct 31, 2025


Dr. Sanquer presents findings from a study on the treatment of ADSL Deficiency with Allopurinol, highlighting improvements in younger and less severely impacted patients. The study showed a positive clinical and biological response to allopurinol in some patients, with reduced agitation and hyperactivity noted. Participants discussed the potential benefits and side effects of allopurinol for young children with mild ADSLD.


Neither this post nor the above video constitutes medical advice. Please contact your doctor.

 
 
 

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Disclosure:

This site is intended to provide basic educational information about Adenylosuccinate Lyase Deficiency Disorder (ADSLD). It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action regarding medical treatment or otherwise based on the information on this website without first consulting a physician.

 

The information contained in this site is intended for your general education and information only and not for use in pursuing any treatment or course of action. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).

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