Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.
D000293:Adolescent; D000328:Adult; D002247:Carbon Isotopes; D002648:Child; D002675:Child, Preschool; D005260:Female; D005964:Glucosyltransferases / Q000378:metabolism*; D005972:Glutaminase / Q000378:metabolism; D005998:Glycine; D006073:Gout / Q000201:enzymology; D006801:Humans; D007042:Hypoxanthines / Q000652:urine; D007668:Kidney / Q000201:enzymology / Q000503:physiopathology; D007677:Kidney Function Tests; D008297:Male; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology; D014527:Uric Acid / Q000096:biosynthesis / Q000097:blood* / Q000652:urine; D014545:Urinary Calculi / Q000201:enzymology*; D014970:Xanthines / Q000134:cerebrospinal fluid / Q000652:urine
D002247:Carbon Isotopes; D007042:Hypoxanthines; D014970:Xanthines; D014527:Uric Acid; D005964:Glucosyltransferases; D005972:Glutaminase; D005998:Glycine