Hereditary deficiency of adenine phosphoribosyl transferase.
We describe a 12 year old patient who developed acute renal failure at the age of 18 months due to radiolucent "uric acid" stones. Measurement of APRT activity showed a complete dificiency in this patient (less than 0.02%). In the urine we found instead of uric acid 2.8-dihyroxyadenine as measured by high pressure liquid chromatography. The pedigree indicates an autosomal-recessive inheritance of this disorder.
D058186:Acute Kidney Injury / Q000209:etiology; D000225:Adenine / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003404:Creatinine / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D006435:Renal Dialysis; D014545:Urinary Calculi / Q000209:etiology
D003404:Creatinine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine