title: A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
abstract: We report a case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Polymerase chain reaction-single strand conformation polymorphism analysis demonstrated that APRT*J and APRT*Q0 alleles from the father and mother, respectively, had been transmitted to the patient. We also reviewed the literature regarding Japanese patients with 2,8-dihydroxyadenine urolithiasis. There seemed to be little difference in clinical course between type 2 homozygotes and compound heterozygotes. However, hemolysate APRT activities of compound heterozygotes were lower than those of type 2 homozygotes.
authors.affiliation: Department of Urology, Faculty of Medicine, Kyoto University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takeuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: J
authors.initials: J
authors.lastname: Fujita
authors.forename: O
authors.initials: O
authors.lastname: Yoshida
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008297:Male; D016133:Polymerase Chain Reaction; D014545:Urinary Calculi / Q000737:chemistry / Q000453:epidemiology / Q000235:genetics*
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine