Definition of Lesch-Nyhan syndrome
1. Noun. A rare inherited genetic disorder, caused by a deficiency of HGPRT, in which uric acid builds up in all body fluids. ¹
¹ Source: wiktionary.com
Medical Definition of Lesch-Nyhan syndrome
A sex-linked recessive inherited disease in humans that results from mutation in the gene for the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HGPRT), located on the X chromosome.
Results in severe mental retardation. It is characterised by physical and mental retardation, and distressing behavioural abnormalities, such as compulsive self mutilation, hyperuricaemia, and choreoathetosis, and renal failure.
Excess uric acid production exists due to the absence of an enzyme essential to purine metabolism.
Inheritance: sex-linked recessive.
(22 Sep 2002)
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