Lesch-Nyhan disease.
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.
Nyhan
W L
WL
Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA. wnyhan@ucsd.edu
D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase