Diagnosis of Genotypes for Adenine Phosphoribosyltransferase (APRT) Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a cause of urolithiasis and renal failure (1, 2). Due to the deficiency of APRT, adenine cannot be converted to AMP, and adenine thus accumulated in the body is catabolized to 2, 8-dihydroxyadenine via xanthine oxidase. Since 2, 8-dihydroxyadenine is a quite insoluble material, it makes crystals in urine. Although mild cases develop urinary stones (3), renal failure requiring hemodialysis or renal transplantation could occur in severe cases (4, 5). Since this disease can successfully be treated with allopurinol, correct diagnosis is important (2).