[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].

The lack of purine salvage enzyme, adenine phosphoribosyltransferase (APRT), is a rare genetic defect that leads to excessive excretion of 2,8-dihydroxyadenine in urine. Due to its low solubility and nephrotoxicity, the defect may result in urolithiasis and renal failure. This review article describes genetic, biochemical and biophysical basis of the disease called dihydroxyadeninuria, as well as clinical problems of diagnosis and treatment.