title: A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi.
abstract: Deficiency in the enzyme adenine-phosphoribosyltransferase (APRT) has given rise to the formation of 2,8-dihydroxyadenine calculi, which are extremely rare. It is the first case of this kind reported in Hungary.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000493:Allopurinol / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D007670:Kidney Calices; D010430:Pentosyltransferases / Q000172:deficiency*
chemical_list: C002993:2,8-dihydroxyadenine; D000493:Allopurinol; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine