Lesch Nyhan syndrome

Common Name(s)

Lesch Nyhan syndrome, Lesch-Nyhan Syndrome, Hypoxanthine guanine phosphoribosyltransferase deficiency

Lesch Nyhan syndrome is an inherited condition caused by the build-up of uric acid. Excess uric acid can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body. Symptoms may include arthritis, poor muscle control, moderate cognitive disabilities, severe kidney problems, and self-mutilating behaviors. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. It is inherited in an X-linked recessive manner. Treatment is based on the symptoms.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lesch Nyhan syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lesch Nyhan syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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 32 free, full-text research articles on human participants. First 3 results:

Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome.
 

Author(s): Ghiabe-Henri Guibinga, Fiona Murray, Nikki Barron, William Pandori, Gorjan Hrustanovic

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 ...

Last Updated: 29 Oct 2013

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Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.
 

Author(s): Rosa J Torres, Juan G Puig, Irène Ceballos-Picot

Journal: Eur. J. Hum. Genet.. 2013 Oct;21(10):.

 

Last Updated: 19 Sep 2013

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Clinical utility gene card for: Lesch-Nyhan syndrome.
 

Author(s): Rosa J Torres, Juan G Puig, Irène Ceballos-Picot

Journal: Eur. J. Hum. Genet.. 2011 Jan;19(1):preceeding 118-20.

 

Last Updated: 14 Dec 2010

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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 2 free, full-text review articles on human participants. First 3 results:

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
 

Author(s): Rosa J Torres, Juan G Puig

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 ...

Last Updated: 8 Feb 2008

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[Treatment of Lesch-Nyhan syndrome].
 

Author(s): I De Antonio, R Torres-Jiménez, A Verdú-Pérez, C Prior de Castro, J García-Puig

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.

Last Updated: 18 Nov 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.