{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:21:54Z","timestamp":1791148914049,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1987,7,29]],"date-time":"1987-07-29T00:00:00Z","timestamp":554515200000},"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":[[1988,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Purine metabolism in the Lesch\u2010Nyhan syndrome has been re\u2010examined in 10 patients. Hypoxanthine and xanthine concentrations in plasma and CSF and urinary excretion have been studied, on and off allopurinol treatment, using high performance liquid chromatographic methods. Accumulation of the substrate, hypoxanthine, of the missing hypoxanthine guanine phosphoribosyltransferase (HPRT) enzyme, is more marked in urine and in CSF than in plasma. The greater increase in CSF is consistent with the most metabolically active tissue, brain, showing the most marked functional changes.<\/jats:p><jats:p>The function of HPRT seems to be the recycling of hypoxanthine which is released from tissues in increasing quantities as energy use, ATP \u2018turnover\u2019, in the tissue increases. The existing screening method for HPRT deficiency, the ratio of the urinary concentration of urate to that of creatinine, shows overlap between the values in severe HPRT deficiency and in controls; this overlap is not found with a urinary hypoxanthine\/creatinine molar concentration ratio.<\/jats:p>","DOI":"10.1007\/bf01800365","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:04:24Z","timestamp":1119373464000},"page":"239-252","source":"Crossref","is-referenced-by-count":47,"title":["Lesch\u2010Nyhan syndrome and its pathogenesis: Purine concentrations in plasma and urine with metabolite profiles in CSF"],"prefix":"10.1002","volume":"11","author":[{"given":"R. A.","family":"Harkness","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases MRC Clinical Research Centre  Watford Road Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. M.","family":"McCreanor","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases MRC Clinical Research Centre  Watford Road Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. W. E.","family":"Watts","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases MRC Clinical Research Centre  Watford Road Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1987,7,29]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105231"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105490"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)60983-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198509263131302"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(71)90438-4"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)84729-5"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105824"},{"key":"e_1_2_1_9_1","volume-title":"Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis","author":"Bremer H. J.","year":"1981"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1982.tb01286.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01531296"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-009-5778-7"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1966.tb04275.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1975.tb03657.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/26.2.227"},{"key":"e_1_2_1_16_1","first-page":"161","volume-title":"Geigy, Wissenschaftliche Tabellen, Teilband Korperflussigkeiten","year":"1977"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)56440-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(84)90743-5"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.36.1.1"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.238.773"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.35.9.999"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1042\/cs0640333"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000241017"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80274-4"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(67)90315-4"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-70-1-155"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(86)90539-4"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-8559-2_31"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198111053051902"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst0151060"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst0150555"},{"key":"e_1_2_1_32_1","first-page":"87","article-title":"Xanthine oxidase: biochemistry distribution and physiology","volume":"548","author":"Parks D. A.","year":"1986","journal-title":"Acta Physiol. Scand."},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1177\/000456328602300304"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI104367"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1971.tb11980.x"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365515709101211"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1059611"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1967.03130160049007"},{"key":"e_1_2_1_39_1","first-page":"583","volume-title":"Metabolic Control and Disease","author":"Rosenberg L. E.","year":"1980"},{"key":"e_1_2_1_40_1","first-page":"827","volume-title":"Metabolic Control and Disease","author":"Seegmiller J. E.","year":"1980"},{"key":"e_1_2_1_41_1","first-page":"453","volume-title":"Brain Energy Metabolism","author":"Siesjo B. K.","year":"1978"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.6.907"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)86071-5"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80297-2"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/0306-4522(81)90145-7"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.2.175"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.10.975"},{"key":"e_1_2_1_48_1","first-page":"688","article-title":"Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4\u2010hydroxyprazalo[3,4\u2010d]pyrimidine)","volume":"66","author":"Watts R. W. E.","year":"1965","journal-title":"J. Lab. Clin. Med."},{"key":"e_1_2_1_49_1","first-page":"43","article-title":"Clinical, postmortem, biochemical and therapeutic observations of the Lesch\u2010Nyhan syndrome with particular reference to the neurological manifestations","volume":"51","author":"Watts R. W. E.","year":"1982","journal-title":"Q. J. Med."},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800063"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2952(76)90400-7"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_70"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800365","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T08:10:55Z","timestamp":1694851855000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7,29]]},"references-count":51,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1988,9]]}},"alternative-id":["10.1007\/BF01800365"],"URL":"https:\/\/doi.org\/10.1007\/bf01800365","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,7,29]]}}}