Lesch Nyhan syndrome
Common Name(s)
Lesch Nyhan syndrome, Lesch-Nyhan Syndrome, Hypoxanthine guanine phosphoribosyltransferase deficiency
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Lesch Nyhan syndrome" for support, advocacy or research.
Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Lesch Nyhan syndrome" for support, advocacy or research.
Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research
http://www.pediatricbrainfoundation.orgRecommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Lesch Nyhan syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lesch Nyhan syndrome" returned 35 free, full-text research articles on human participants.
First 3 results:
Journal:
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, ...
Journal: Hum. Mol. Genet.. 2013 Nov;22(22):4502-15.
Lesch-Nyhan syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). A series of motor, cognitive and neurobehavioral anomalies characterize this disease phenotype, which ...
Journal: Eur. J. Hum. Genet.. 2013 Oct;21(10):.
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lesch Nyhan syndrome" returned 3 free, full-text review articles on human participants.
First 3 results:
Journal: Pediatr Neonatol. 2014 Aug;55(4):312-5.
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations. The diagnosis of Lesch-Nyhan syndrome (LNS) is frequently delayed until self-mutilation becomes evident. ...
Journal:
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence ...
Journal: Rev Neurol. ;35(9):877-83.
We have reviewed the treatments employed to alleviate the different manifestations of the Lesch Nyhan syndrome, the adverse reactions related to these treatments, and the prospectives of future therapeutic approaches now under active research.
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/HPRT1
https://ghr.nlm.nih.gov/about/support-advocacy-groups
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Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

Finding the right clinical trial for Lesch Nyhan syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.