Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.
In one case of a urinary lithiasis, termed "uric lithiasis" on biochemical examination, the authors describe the symptomatology of a child with a complete deficit in adenine phosphoribosyl transferase. After more intensive investigation the calculi have been found to be composed of a new clinical compound: 2,8-hydroxyadenine.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D001806:Blood Urea Nitrogen; D002675:Child, Preschool; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D012008:Recurrence; D013053:Spectrophotometry; D014527:Uric Acid / Q000097:blood; D014545:Urinary Calculi / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D014556:Urine / Q000032:analysis
D014527:Uric Acid; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase