{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:12Z","timestamp":1777868832175,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>Extreme degrees of hypoxanthine phosphoribosyltransferase (HPRT) deficiency\nin man are associated with gross sex-linked neurological dysfunction, gout and urinary stones\n(the Lesch-Nyhan or \u2018complete HPRT-deficiency\u2019 syndrome). The less severe degrees of\nenzyme deficiency (sex-linked recessive gout and\/or urolithiasis or the \u2018partial HPRT-deficiency\u2019\nsyndrome) may be associated with minor neurological manifestations. Whole body\npurine synthesis de novo is accelerated in both these groups of patients. A strain of mice with\nan experimentally produced mutation at the HPRT locus showed some residual \u2018apparent\nHPRT activity\u2019 in brain, liver, testicular, splenic, kidney and ovarian tissues but not in\nerythrocyte haemolysates. The mutation removes exons 1 and 2 of the coding region of the\ngene together with the promotor and about 10 kb of upstream sequence from the gene. It is\ntherefore possible that the observed \u2018apparent HPRT activity\u2019 in these mice is due to the\noperation of an alternative metabolic pathway. Purine synthesis de novo was markedly\naccelerated in their brain, testicular, splenic and kidney tissues. It was not accelerated in the\nliver tissue of male mice hemizygous for the mutation and the degree of acceleration in the\nfemale homozygotes only just reached statistical significance at the p = 0.02 level. This\nobservation casts doubt on the importance of modulations in the rate of hepatic purine\nsynthesis de novo as a mechanism for maintaining a steady supply of purines for translocation\nto other organs.<\/jats:p>","DOI":"10.1159\/000468723","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:21:04Z","timestamp":1502472064000},"page":"155-159","source":"Crossref","is-referenced-by-count":4,"title":["Purine Synthesis de novo and Salvage in Hypoxanthine\nPhosphoribosyltransferase-Deficient Mice"],"prefix":"10.1159","author":[{"given":"Jennifer","family":"Allsop","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard W.E.","family":"Watts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000468723","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:45:14Z","timestamp":1777553114000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000468723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000468723","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}