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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.

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1. What is Lesch-Nyhan Syndrome?

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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