title: Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation.
abstract: Activity of hypoxanthine-guanine and adenine phosphoribosyl transferase enzymes has been assayed in erythrocytes from 10 normal adults, 37 subjects with gout, and 21 mentally retarded children with high and normal urinary uric acid:creatinine ratios. These were compared with one case of known HGPRTase deficiency. Apart from the last subject, no cases of HGPRTase deficiency were found.
mesh_terms: D000225:Adenine; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006073:Gout / Q000097:blood / Q000201:enzymology*; D006147:Guanine; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability / Q000097:blood / Q000201:enzymology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D011854:Radiochemistry; D014166:Transferases / Q000097:blood*; D014527:Uric Acid / Q000032:analysis
chemical_list: D007042:Hypoxanthines; D014527:Uric Acid; D006147:Guanine; D003404:Creatinine; D014166:Transferases; D000225:Adenine