title: Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
abstract: We have studied adenine phosphoribosyltransferase (APRT) in the hemolysates from the families of 2,8-dihydroxyadenine urolithiasis associated with partial deficiency of APRT (the Japanese type) and complete deficiency of APRT (the null type). The APRT in the control subjects was found to be heat-stable at the physiological concentration of phosphoribosylpyrophosphate (PRPP), which was close to the value of its Km for PRPP. The APRT in the Japanese type showed 10 times higher Km values for PRPP and needed a comparably increased level of PRPP for stability in vitro. No change in red cell PRPP was found in the Japanese type of APRT deficiency. The content of APRT enzyme protein was decreased in the hemolysates of the Japanese type, probably due to its lability at the level of PRPP present in the cells. The heterozygote of the null type also had labile enzyme molecules at the physiological PRPP concentration.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000276:immunology; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D007700:Kinetics; D008875:Middle Aged; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D010754:Phosphoribosyl Pyrophosphate / Q000097:blood; D014545:Urinary Calculi / Q000201:enzymology / Q000235:genetics*
chemical_list: C002993:2,8-dihydroxyadenine; D010754:Phosphoribosyl Pyrophosphate; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine