Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria
Safranow, K.
Postepy Higieny i Medycyny Doswiadczalnej 52(1): 89-104
1998
ISSN/ISBN: 0032-5449 PMID: 9608233 Document Number: 488899
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.