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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.

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