title: Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
abstract: A 12-year-old boy presented with acute renal failure (ARF) accompanied by a disproportionate increase of serum uric acid level and massive uric acid crystalluria. After alkalinization and allopurinol therapy, serum uric acid and renal function returned to normal values. A further enzymatic study showed the existence of a partial hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficit (less than 1% of HPRT normal activity). Although ARF is an exceptional form of presentation of HPRT deficiency, this possibility should be considered whenever an ARF is accompanied by disproportionate high levels of serum uric acid.
mesh_terms: D058186:Acute Kidney Injury / Q000201:enzymology / Q000209:etiology / Q000378:metabolism*; D002648:Child; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D008297:Male; D014527:Uric Acid / Q000378:metabolism
chemical_list: D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase