{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:57:03Z","timestamp":1778155023564,"version":"3.51.4"},"reference-count":11,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2\u2005L\/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.<\/jats:p>","DOI":"10.1136\/bcr-2013-201997","type":"journal-article","created":{"date-parts":[[2013,12,10]],"date-time":"2013-12-10T07:17:45Z","timestamp":1386659865000},"page":"bcr2013201997","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Late diagnosis of Lesch-Nyhan disease variant"],"prefix":"10.1136","volume":"2013","author":[{"given":"Brian Percy","family":"Doucet","sequence":"first","affiliation":[{"name":"Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dev","family":"Jegatheesan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Burke","sequence":"additional","affiliation":[{"name":"Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,12,10]]},"reference":[{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2010.07.003"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s11926-011-0231-5","article-title":"Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants","volume":"14","author":"Torres","year":"2010","journal-title":"Curr Rheumatol Rep"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-48"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq013"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0901-9"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.6","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/BF00220062","article-title":"A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency","volume":"90","author":"Sculley","year":"1992","journal-title":"Hum Genet"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.1984.tb03788.x"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00094-6"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.9","unstructured":"Nyhan WL O'Neill JP Jinnah HA . Lesch-Nyhan syndrome. 2000 Sep 25 [Updated 2010 Jun 10]. In: Pagon RA Bird TD Dolan CR ., eds. GeneReviews\u2122 [Internet]. Seattle, WA: University of Washington, Seattle, 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1149\/"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.10","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kem056a"},{"key":"2025082703430652000_2013.dec10_1.bcr2013201997.11","doi-asserted-by":"publisher","DOI":"10.1080\/15257770600893974"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-201997","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:43:13Z","timestamp":1756291393000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-201997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,10]]},"references-count":11,"alternative-id":["10.1136\/bcr-2013-201997"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-201997","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,10]]}}}