2,8 dihydroxy-adenine urolithiasis



2,8 dihydroxy-adenine urolithiasis (also called adenine phosphoribosyltransferase deficiency) is an autosomal recessive disorder resulting in accumulation and urinary excretion of the insoluble purine 2,8-dihydroxyadenine. It can result in nephrolithiasis, acute renal failure and permanent kidney damage.