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 April 2026
Newly diagnosed with
Lesch-Nyhan syndrome?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.