Lesch-Nyhan syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: HPRT complete deficiency | HPRT deficiency grade IV | Hypoxanthine guanine phosphoribosyltransferase complete deficiency | Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term) a hereditary disorder of purine metabolism and is associated with uric acid overproduction (UAO) neurological troubles and behavioral problems.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Lesch-Nyhan syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Love Never Sinks

Love Never Sinks supports families affected by Lesch-Nyhan Disease by addressing urgent financial needs, sending care packages, and providing educational resources. We collaborate with physicians, schools, and medical professionals to equip those working with LN individuals. Our partnerships with doctors and researchers drive advancements in research, enhancing our community's understanding.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.