Lesch-Nyhan+Syndrome


 * __Introductory:__ ** Lesch-Nyhan Syndrome is a disease where the metabolism of the raw material of genes is disrupted. More specifically, it’s a range of mutations of the [|__HPRT1__] gene which all result in the enzyme, hypoxanthine-guanine phosphoribosyltransferase, having a lower production rate than normal.

This disease was discovered by Michael Lesch and William Nyhan (respectively) in 1964. The enzymatic defect associated with the disease (deficiency of the previously mentioned HPRT) was discovered by Seegmiller and colleagues in 1967.
 * __Description:__ ** Lesch-Nyhan Syndrome is a mutation of the [|__HPRT1__] enzyme gene. The enzyme is used to speed up the recycling of purines from broken down [|__DNA__] and [|__RNA__] . In the shortage of the enzyme, the purines can’t be recycled which results in increased levels of uric acid that can form painful deposits around the body.
 * __Discovery:__ **




 * __Treatment:__ ** At this point in time, there is no cure for Lesch-Nyhan Syndrome. However, studies are being conducted using gene therapy to one day, find a cure. For the time being, treatment simply consists of medication to decrease the the levels of uric acid in the body.



[|__https://www.ncbi.nlm.nih.gov/books/NBK22194/__]
 * __Works Cited:__ **

[|__http://emedicine.medscape.com/article/1181356-overview__]