Lesch-Nyhan Disease |
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| Authors: | W L Nyhan |
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| Institution: | Department of Pediatrics , University of California, San Diego , La Jolla, California, USA |
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| Abstract: | Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered. |
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| Keywords: | Lesch-Nyhan disease HPRT mutation hyperuricemia self-injurious behavior |
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