Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
D000493:Allopurinol; D004912:Erythrocytes / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007106:Immune Sera; D007118:Immunoassay; D007231:Infant, Newborn; D007700:Kinetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D011687:Purines / Q000378:metabolism
D007106:Immune Sera; D011687:Purines; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase