This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Lesch-Nyhan syndrome

Authoring team

Lesch-Nyhan syndrome is an X-linked recessive disorder that is characterised by an enzyme defect in purine metabolism (reduced hypoxanthine-guanine phosphoribosyl transferase) and excessive uric acid production and excretion.

This syndrome is only fully expressed in males.

Reference:

  1. Nanagiri A. Lesch-Nyhan Syndrome. Treasure Island (FL): StatPearls Publishing. 2025 Jan.

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page