title: 2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
abstract: Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes, and who exhibits the type II phenotype designated APRT*J (Japanese type).
authors.affiliation: Department of Urology, Tokai University School of Medicine, Isehara City.
authors.forename: Y
authors.initials: Y
authors.lastname: Katsuoka
authors.forename: H
authors.initials: H
authors.lastname: Miyakita
authors.forename: M
authors.initials: M
authors.lastname: Shiramizu
authors.forename: H
authors.initials: H
authors.lastname: Iwagaki
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D005192:Family Health; D005838:Genotype; D006801:Humans; D008297:Male; D014545:Urinary Calculi / Q000737:chemistry / Q000201:enzymology / Q000209:etiology*
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine