{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:42:08Z","timestamp":1778276528988,"version":"3.51.4"},"reference-count":14,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,1,1]]},"abstract":"<jats:p>Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency: complete HPRT deficiency (Lesch-Nyhan syndrome) presenting with severe neurologic or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. A 3-generation kindred is described in which the recognition of partial HPRT deficiency in 2 adolescent male siblings presenting with uric acid lithiasis led to the diagnosis in 2 maternal uncles already in renal failure of unknown cause. This report highlights the importance of clinical awareness leading to early diagnosis, appropriate diagnostic methodology, and therapy of a treatable inherited disorder of purine metabolism for the prevention of renal failure.<\/jats:p>","DOI":"10.1542\/peds.109.1.e17","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:17:55Z","timestamp":1092442675000},"page":"e17-e17","source":"Crossref","is-referenced-by-count":16,"title":["Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three Generations: A Cautionary Tale"],"prefix":"10.1542","volume":"109","author":[{"given":"Persephone","family":"Augoustides-Savvopoulou","sequence":"first","affiliation":[{"name":"Biochemistry Laboratory, Hippocration General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotis","family":"Papachristou","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hippocration General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynette D.","family":"Fairbanks","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Guy\u2019s Hospital, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kostas","family":"Dimitrakopoulos","sequence":"additional","affiliation":[{"name":"University Second Internal Medicine Department, Hippocration General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony M.","family":"Marinaki","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Guy\u2019s Hospital, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Anne","family":"Simmonds","sequence":"additional","affiliation":[{"name":"Purine Research Unit, Guy\u2019s Hospital, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2002,1,1]]},"reference":[{"key":"2021121016345462000_R1","unstructured":"Jinnah HA, Friedman T. Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY:McGraw-Hill; 2001:2571\u20132584"},{"key":"2021121016345462000_R2","unstructured":"Cameron JS, Moro F, Mcbride M, Simmonds HA. Inherited disorders of purine metabolism and transport. In: Davison AM, Cameron JS, Grunfield J-P, Kerr DNS, Ritz E, Winearls CG, eds. Oxford Textbook of Clinical Nephrology. 2nd ed. Oxford, England: Oxford University Press; 1997:2469\u20132482"},{"key":"2021121016345462000_R3","unstructured":"Simmonds HA. Purine and pyrimidine disorders. In: Holten JB, ed. The Inherited Metabolic Diseases. Edinburgh, Scotland: Churchill Livingstone; 1994:279\u2013350"},{"key":"2021121016345462000_R4","doi-asserted-by":"crossref","unstructured":"Nyhan WL. The recognition of the Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis.1997;20:171\u2013178","DOI":"10.1023\/A:1005348504512"},{"key":"2021121016345462000_R5","doi-asserted-by":"crossref","unstructured":"Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE. A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A.1967;57:1735\u20131739","DOI":"10.1073\/pnas.57.6.1735"},{"key":"2021121016345462000_R6","doi-asserted-by":"crossref","unstructured":"Mateos EA, Puig JG. Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome. J Inherit Metab Dis.1994;17:138\u2013142","DOI":"10.1007\/BF00735419"},{"key":"2021121016345462000_R7","unstructured":"Simmonds HA, Duley JA, Davies PM. 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