{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:09:50Z","timestamp":1771002590260,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1986,5,8]],"date-time":"1986-05-08T00:00:00Z","timestamp":515894400000},"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":[[1987,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This paper reports the detection of five inherited disorders of purine and one of pyrimidine metabolism using intact red blood cells (RBCs) and compares the findings with those from RBC lysate activity. Two different phosphate levels (1 and 18 mmol L<jats:sup>\u22121<\/jats:sup> P<jats:sub>i<\/jats:sub>) were used to evaluate endogenous PP\u2010ribose\u2010P levels and their generation by PP\u2010ribose\u2010P synthetase. The importance of this dual approach is demonstrated by the following evidence:<jats:list>\n<jats:list-item>\n<jats:p>Six out of eight patients with no detectable hypoxanthine\u2010guanine phosphoribosyltransferase (HGPRT) RBC lysate activity had up to 25% of normal activity in their intact RBCs. Two Lesch\u2010Nyhan patients showed no detectable activity in intact or lysed RBCs.<\/jats:p><\/jats:list-item>\n<jats:list-item>\n<jats:p>RBC lysates from two heterozygotes for adenosine deaminase (ADA) deficiency also showed no detectable activity, but up to 60% of normal activity using intact RBCs.<\/jats:p><\/jats:list-item>\n<jats:list-item>\n<jats:p>The existence of an aberrant enzyme in a kindred with a superactive PP\u2010ribose\u2010P synthetase was evident from the fact that intact RBCs failed to respond normally to phosphate activation, despite normal HGPRT and adenine phosphoribosyltransferase (APRT) RBC lysate activity.<\/jats:p><\/jats:list-item>\n<jats:list-item>\n<jats:p>Raised endogenous PP\u2010ribose\u2010P levels in intact RBCs were demonstrable only in purine nucleoside phosphorylase (PNP) and HGPRT deficiency; levels were normal in APRT deficiency and hereditary oroticaciduria (OPRT\/ODC) deficiency.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><jats:p>The results indicate that diagnosis from RBC lysate activity alone may be misleading. Intact RBC studies clearly provide a better indication of the functional capacity of the enzyme<jats:italic>in vivo<\/jats:italic>. They also show a closer correlation with the clinical phenotype and allow further insight into the associated biochemical abnormalities in some cases.<\/jats:p>","DOI":"10.1007\/bf01800045","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:56:02Z","timestamp":1119372962000},"page":"174-186","source":"Crossref","is-referenced-by-count":32,"title":["Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders"],"prefix":"10.1002","volume":"10","author":[{"given":"L. D.","family":"Fairbanks","sequence":"first","affiliation":[{"name":"Purine Laboratory, 18th Floor, United Medical and Dental Schools Guy's Hospital Tower  London SE1 9RT UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. A.","family":"Simmonds","sequence":"additional","affiliation":[{"name":"Purine Laboratory, 18th Floor, United Medical and Dental Schools Guy's Hospital Tower  London SE1 9RT UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. R.","family":"Webster","sequence":"additional","affiliation":[{"name":"Purine Laboratory, 18th Floor, United Medical and Dental Schools Guy's Hospital Tower  London SE1 9RT UK"},{"name":"Department of Community Health Auckland Hospital  Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1986,5,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_10"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-4553-4_2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(76)90342-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-4553-4_1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_25"},{"key":"e_1_2_1_8_1","first-page":"423","article-title":"The spectrum of hypoxanthine\u2010guanine phosphoribosyltransferase deficiency","volume":"42","author":"Emmerson B. T.","year":"1973","journal-title":"Q. J. Med."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)85112-9"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(74)90041-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","unstructured":"Henderson J. F. Lowe J. K.andBarankiewicz J.Purine and pyrimidine metabolism:pathways pitfalls and perturbations. InElliot K.andFitzsimons D. W.(eds.)Purine and Pyrimidine Metabolism Ciba Symposium 48 (new series) 1978 pp.3\u201314.","DOI":"10.1002\/9780470720301.ch2"},{"key":"e_1_2_1_12_1","first-page":"73","article-title":"Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy","volume":"19","author":"Hirschhorn R.","year":"1983","journal-title":"Birth Defects"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(85)90127-1"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02263652"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-9140-5_64"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_15"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-5104-7_80"},{"key":"e_1_2_1_18_1","first-page":"1144","volume-title":"The Metabolic Basis of Inherited Disease","author":"Simmonds H. A.","year":"1983"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)91690-7"},{"key":"e_1_2_1_20_1","first-page":"43","article-title":"Clinical, postmortem, biochemical and therapeutic observations on the Lesch\u2010Nyhan syndrome with particular reference to the neurological manifestations","volume":"201","author":"Watts R. W. E.","year":"1982","journal-title":"Q. J. Med."},{"key":"e_1_2_1_21_1","first-page":"163","article-title":"Adenine phosphoribosyltransferase in patients with disorders of purine and pyrimidine metabolism","volume":"22","author":"Wilson J. M.","year":"1982","journal-title":"J. Lab. Clin. Med."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800045","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T00:21:18Z","timestamp":1694910078000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,5,8]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,6]]}},"alternative-id":["10.1007\/BF01800045"],"URL":"https:\/\/doi.org\/10.1007\/bf01800045","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,5,8]]}}}