{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:00Z","timestamp":1777868820704,"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":["Enzymol Biol Clin"],"abstract":"<jats:p>The Lesch-Nyhan syndrome is X-chromosome- \nlinked and its cardinal features are mental retardation, cho-\nreoathetosis and self-mutilating behavior. Two metabolically \nabnormal conditions are always associated with this syndrome.\nOne is hyperuricemia, the cause of which is a deficiency or\nabsence of the enzyme, hypoxanthine-guanine phosphoribosyltransferase. This\nenzyme is responsible for transforming the free bases, hypoxanthine and guanine,\ninto their metabolically useful derivatives, inosine monophosphate and guanine\nmonophosphate. The 2nd condition is an increased synthesis de novo of purines. The\ncause, currently most accepted for this condition, is an increased availability of\nphosphoribosylpyrophosphate (PRPP), a compound necessary for the 1st and rate\nlimiting step of purine biosynthesis.\nThe relationship between these distinct biochemical abnormalities and the\nbehavioral abnormalities observed is unknown, but several suggestions are given.\nThe extent of our knowledge relating the fairly clear biochemical abnormalities to a\ndistinct behavioral syndrome is perhaps discouraging. Solid evidence supporting\nthe currently most probable theories is lacking and hypotheses of mechanisms\ninvolving alternate areas of metabolism are virtually absent. It is evident that the\nopportunity for research in this area is wide open.<\/jats:p>","DOI":"10.1159\/000459527","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:13:04Z","timestamp":1502471584000},"page":"129-142","source":"Crossref","is-referenced-by-count":5,"title":["The Lesch-Nyhan Syndrome"],"prefix":"10.1159","author":[{"given":"W.P.","family":"Thorpe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzymologia biologica et clinica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000459527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:44:31Z","timestamp":1777553071000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000459527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000459527","archive":["Portico"],"relation":{},"ISSN":["0425-1423","2504-2572"],"issn-type":[{"value":"0425-1423","type":"print"},{"value":"2504-2572","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}