[Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome].
The Lesh-Nyhan syndrome was detected in nine boys among a contingent of mentally retarded patients. Various impairments of purine bases reutilization were obsence and partial deficiency in activity of guanine hypoxanthine phosphoribosyl transferase, hyperactivity of adenine phosphoribosyl transferase as well as normal activity but altered stability and sensitivity to inhibitors of guanine hypoxanthine phosphorybosyl transferase. These data suggest distinct heterogeneity in the Lesh-Nyhan patients.
D000228:Adenine Phosphoribosyltransferase / Q000097:blood*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood*; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology; D007700:Kinetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D008297:Male; D010430:Pentosyltransferases / Q000097:blood*
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase
Aktivnost' purinfosforiboziltransferaz éritrotsitov pri sindrome Lesh-Nikhana.