2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
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).
Katsuoka
Y
Y
Department of Urology, Tokai University School of Medicine, Isehara City.
Miyakita
H
H
Shiramizu
M
M
Iwagaki
H
H
Ikeda
T
T
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*
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine