HGPRT deficiency with normal erythrocyte PRPP and APRT activity.
D000228:Adenine Phosphoribosyltransferase / Q000097:blood*; D002648:Child; D004912:Erythrocytes / Q000378:metabolism*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D008297:Male; D010428:Pentosephosphates / Q000097:blood*; D010430:Pentosyltransferases / Q000097:blood*; D010754:Phosphoribosyl Pyrophosphate / Q000097:blood*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood; D012016:Reference Values
D010428:Pentosephosphates; D010754:Phosphoribosyl Pyrophosphate; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase