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.
MeSH terms
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Adenine Phosphoribosyltransferase / metabolism
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Humans
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Hypoxanthine Phosphoribosyltransferase / deficiency
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Hypoxanthine Phosphoribosyltransferase / genetics
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Hypoxanthine Phosphoribosyltransferase / metabolism
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Lesch-Nyhan Syndrome / enzymology*
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Lesch-Nyhan Syndrome / genetics*
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Mutation
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Phenotype
Substances
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Adenine Phosphoribosyltransferase
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Hypoxanthine Phosphoribosyltransferase