title: Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
abstract: 2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families. All Caucasian patients with the same lithiasis are completely deficient in this enzyme. Partially purified APRT from one of the Japanese families with the lithiasis associated with a partial deficiency of APRT had a reduced affinity for 5-phosphoribosyl-1-pyrophosphate (PRPP). In the present investigations, we have shown that this characteristic is common in mutant enzymes from all the four separate Japanese urolithiasis families associated with partial APRT deficiencies so far tested. The mutant enzymes also had several other characteristics in common including increased resistance to heat in the absence of PRPP and reduced sensitivity to the stabilizing effect of PRPP. These data suggest that these families have a common mutant allele (APRT*J) at the APRT gene locus.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D005260:Female; D006358:Hot Temperature; D006801:Humans; D007223:Infant; D007564:Japan; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010430:Pentosyltransferases / Q000172:deficiency*; D013601:T-Lymphocytes / Q000201:enzymology; D014545:Urinary Calculi / Q000201:enzymology / Q000209:etiology*
chemical_list: C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine