{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:30:25Z","timestamp":1778275825139,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,2,4]],"date-time":"2002-02-04T00:00:00Z","timestamp":1012780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u2010year\u2010old boy was determined to have partial hypoxanthine phosphoribosyl transferase (HPRT) enzyme deficiency without the phenotypic features of Lesch\u2010Nyhan syndrome. He presented with recurrent acute renal failure (ARF) from hyperuricemia. Treatment with allopurinol prevented further attacks of renal failure. T lymphocyte cultures were used to sequence the <jats:italic>HPRT<\/jats:italic> cDNA and a novel single nucleotide substitution at codon 65 in exon 3 was found (193C\u2009&gt;\u2009T, 65leu\u2009&gt;\u2009phe). This mutation was confirmed by genomic DNA sequencing and was also detected in his heterozygous, asymptomatic mother and sister. Unlike the cells from patients with classic Lesch\u2010Nyhan syndrome, the in vitro cultures of our patient's T\u2010lymphocytes did not proliferate in the presence of purine analogue 6\u2010thioguanine (TG). This report highlights the unusual occurrence of recurrent ARF in a child with partial HPRT enzyme deficiency. The absence of TG resistance in vitro with this mutation shows that even small alterations in enzyme activity in vivo can result in disease symptoms, in this instance, hyperuricemia sufficient to cause ARF. Atypical <jats:italic>HPRT<\/jats:italic> mutations should also be considered in cases of unusual renal failure, because correct diagnosis can allow appropriate treatment, as well as informed genetic counseling. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10217","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"219-222","source":"Crossref","is-referenced-by-count":24,"title":["Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the <i>HPRT<\/i> gene"],"prefix":"10.1002","volume":"108","author":[{"given":"Tarak","family":"Srivastava","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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