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Pathway Description
Lesch-Nyhan Syndrome (LNS)
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-02
Lesch-Nyhan Syndrome is a syndrome identified through its neurological, behavioural metabolic impact. It is characterized by a mental deficit and self-mutilation, accompanied with an overproduction of uric acid. A mutation of the HPRT1 gene are responsible for this condition, as they cause the enzyme hypoxanthine phosphoribosyltransferase 1 to be present in extremely low levels or absent altogether. This causes an overproduction of uric acid as the purines are not recycled, but only broken down. This gene is also connected to dopamine production, which a lack of causes smooth muscle function to suffer, resulting in dystonia, ballismus and chorea. Patients are usually unable to walk, and the connection between a lack of hypoxanthine phosphoribosyltransferase 1 and the behavioural abnormalities associated with this condition are unknown.
References
Lesch-Nyhan Syndrome (LNS) References
[OMIM: Entry 300322](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300322Jinnah, H. A.; Friedmann, T. : Lesch-Nyhan disease and its variants.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic & Molecular Bases of Inherited Disease. Vol. II. 8th ed. New York: McGraw-Hill 2001. P. 2537.)
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Pubmed: 523196
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Pubmed: 6117011
Nyhan WL, O'Neill JP, Jinnah HA, Harris JC: Lesch-Nyhan Syndrome
Pubmed: 20301328
Purine Metabolism References
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Pubmed: 15815621
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