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

K Safranow ¹

1. Katedra i Zakład Biochemii i Chemii Pomorskiej Akademii Medycznej Szczecinie.

Published:

GICID: 01.3001.0000.3164

Available language versions: en pl

Issue: Postepy Hig Med Dosw 1998; 52 (1)

Abstract

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.