{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:59:04Z","timestamp":1789905544712,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lesch\u2010Nyhan syndrome was first described over thirty years ago. The original patient was a 4\u2010year\u2010old boy with neurological abnormalities as well as haematuria. Crystals in his urine were identified and confirmed to be uric acid. The massive excretion of this purine led to metabolic studies using isotopically labelled uric acid to study turnover rates. Clues to the site of the enzyme defect resulted from studies with the immunosuppressive agent azathioprine, which normally causes uric acid concentrations to fall in blood and urine but was without effect in a Lesch\u2010Nyhan patient. A deficiency of hypoxanthine phosphoribosyltransferase (HPRT) activity explained this observation in Lesch\u2010Nyhan patients. Subsequent studies have indicated that the degree of HPRT deficiency appears to determine the severity of the disease. Molecular studies have shown that most families carry a unique mutation. Attempts are being made to correlate the type and site of a specific mutation with a particular phenotype.<\/jats:p>","DOI":"10.1023\/a:1005348504512","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"171-178","source":"Crossref","is-referenced-by-count":124,"title":["The recognition of Lesch\u2010Nyhan syndrome as an inborn error of purine metabolism"],"prefix":"10.1002","volume":"20","author":[{"given":"W. L.","family":"Nyhan","sequence":"first","affiliation":[{"name":"Division of Biochemical Genetics, Department of Pediatrics University of California, San Diego  9500 Gilman Drive La Jolla CA 92093\u20100830 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1997,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197912000-00013"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1114586"},{"key":"e_1_2_1_4_1","first-page":"951","article-title":"Identification of 17 independent mutations responsible for human hypoxanthine\u2010guanine phosphoribosyltransferase (HPRT) deficiency","volume":"48","author":"Davidson BL","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6262918"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.2.477"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(64)90104-4"},{"key":"e_1_2_1_8_1","first-page":"68","article-title":"Sindrome de Lesch\u2010Nyhan: neuva variante con actividad de hipoxantina\u2010guanina fosforribosil transferasa (HPRT) superior a la de la enfermedad clasica y deteccion del rasgo heterocigoto en los hematies de la portadora","volume":"84","author":"Nieto LH","year":"1985","journal-title":"Medicina Clinica (Barc)"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-196701000-00001"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80413-5"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5673-8_20"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.155.3770.1682"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.6.427"},{"key":"e_1_2_1_14_1","first-page":"241","volume-title":"The Molecular and Genetic Basis of Neurological Disease","author":"Sege\u2010Peterson K","year":"1992"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80236-6"},{"key":"e_1_2_1_16_1","first-page":"179","volume-title":"Application of Gas Chromatography \u2014Mass Spectrometry to the Investigation of Human Disease, Proceedings of a Workshop","author":"Sweetman L","year":"1974"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/310412a0"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005348504512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005348504512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:59:07Z","timestamp":1694746747000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005348504512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1023\/A:1005348504512"],"URL":"https:\/\/doi.org\/10.1023\/a:1005348504512","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}