Lesch Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
It causes hyperuricaemia (high serum levels of uric acid). People with this syndrome are prone to have uric acid kidney stones and learning disabilities.
This glossary is designed to explain some of the jargon and gobbledygook used by some people when they talk about autism or research..
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