In 1964, Dr. William Nyhan and his medical student Michael Lesch determined a patient diagnosed with cerebral palsy had other symptoms that did not fit his diagnosis. Their research resulted in a new classification: Lesch-Nyhan syndrome or LNS. This rare congenital metabolic disorder has lifelong physical, cognitive, and behavioral impacts. There is no cure for LNS, and treatment depends on the symptoms that manifest.
The enzyme hypoxathine-guanine phosphoribosyltransferase is a protein that allows cells to produce purines, one of the building blocks of DNA and RNA. IThe HPRT1 gene controls its production, and when that gene mutates, it causes by-products of the purine metabolic process to accumulate in the body. To date, researchers have linked more than 200 mutations of HRPT1.
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