{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:26:06Z","timestamp":1777868766186,"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>Physiologically superactive phosphoribosylpyrophosphate (PRPP) synthetase, due to\nfeedback resistance mutation, was found in a family with excessive purine production, gout and\nuric acid lithiasis. The superactivity of the mutant enzyme was manifest in the propositus\u2019\nerythrocytes and cultured fibroblasts, in increased generation, content and metabolic availability\nof PRPP, leading in the fibroblasts to acceleration of the rate of purine synthesis de novo.\nOne of the propositus\u2019 two siblings was similarly affected, but the propositus\u2019 father, his second\nbrother and four sons, were all clinically and biochemically normal. The mother was clinically\nnormal and normouricemic, but hyperuricosuric. Cultured fibroblasts from her skin exhibited\nvariability in PRPP content and availability and in the rate of purine synthesis de novo. The\nmother\u2019s cultures were found to contain a mosaicism of two cell populations, one with normal and\nthe other with mutant PRPP synthetase, indicating an X-linked pattern of inheritance of the PRPP\nsynthetase abnormality in this gouty family.<\/jats:p>","DOI":"10.1159\/000458543","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:10:35Z","timestamp":1502471435000},"page":"1-9","source":"Crossref","is-referenced-by-count":9,"title":["Overproduction Disease in Man due to Enzyme Feedback\nResistance Mutation"],"prefix":"10.1159","author":[{"given":"Oded","family":"Sperling","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pnina","family":"Boer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Brosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Zoref","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"de Vries","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\/000458543","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:39:07Z","timestamp":1777552747000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000458543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000458543","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]]}}}