{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T03:40:37Z","timestamp":1694922037367},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1986,2,12]],"date-time":"1986-02-12T00:00:00Z","timestamp":508550400000},"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":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [<jats:sup>14<\/jats:sup>C]hypoxanthine and of [<jats:sup>14<\/jats:sup>C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate of<jats:italic>de novo<\/jats:italic> purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch\u2010Nyhan syndrome.<\/jats:p>","DOI":"10.1007\/bf01799493","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:54:27Z","timestamp":1119372867000},"page":"82-88","source":"Crossref","is-referenced-by-count":6,"title":["HPRT\u2010Deficiency associated with normal PRPP concentration and APRT activity"],"prefix":"10.1002","volume":"10","author":[{"given":"R. B.","family":"Gordon","sequence":"first","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Ipswich Road Brisbane 4102 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. T.","family":"Keough","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Ipswich Road Brisbane 4102 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. T.","family":"Emmerson","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Ipswich Road Brisbane 4102 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1986,2,12]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"407","article-title":"Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate\u2010pyrophosphate phosphoribosyltransferase: a study of two families","volume":"55","author":"Dean B. M.","year":"1978","journal-title":"Clin. Sci. Mol. 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N.","year":"1971","journal-title":"J. Lab. Clin. Med."},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(64)90104-4"},{"key":"e_1_2_1_18_1","first-page":"903","article-title":"The enzymatic spectrophotometric method for determination of uric acid","volume":"54","author":"Liddle L.","year":"1959","journal-title":"J. Lab. Clin. Med."},{"key":"e_1_2_1_19_1","first-page":"932","article-title":"Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates","volume":"103","author":"Losman M. J.","year":"1984","journal-title":"J. Lab. Clin. Med."},{"key":"e_1_2_1_20_1","first-page":"732","article-title":"Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiency (Lesch\u2010Nyhan disease)","volume":"74","author":"Rubin C. S.","year":"1969","journal-title":"J. Lab. Clin. 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