label: adenine phosphoribosyltransferase deficiency
label_lc: adenine phosphoribosyltransferase deficiency
description: "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."