title: Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
abstract: APRT deficiency may be totally benign or life threatening. The importance of early recognition/diagnosis is thus stressed. Urolithiasis (2,8-DHA stones: the precipitating factor in all cases) is treatable. With early recognition and treatment allopurinol without alkali and a diet low in purine homozygotes have remained clinically and biochemically normal to date. 'Uric acid' stones in children must always be suspect and subjected to sophisticated analysis. Diagnosis from red cell APRT activity may also have its pitfalls.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000378:metabolism; D005260:Female; D006801:Humans; D007668:Kidney / Q000378:metabolism; D007669:Kidney Calculi / Q000378:metabolism*; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D014527:Uric Acid / Q000032:analysis
chemical_list: D014527:Uric Acid; C002993:2,8-dihydroxyadenine; D003404:Creatinine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine