{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:14:06Z","timestamp":1789179246300,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"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":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>When to suspect and thus investigate for inborn errors of purine and pyrimidine metabolism is a dilemma for even the most observant investigator. Often parents of affected children, or a history involving siblings, can provide valuable clues. The recognition of new purine and pyrimidine disorders requires skill and serendipity. But even identifying known disorders can prove difficult, since they cover a broad spectrum of illnesses, can have more than one symptom, or lead to early death. This problem is compounded by the fact that they are relatively recently described and therefore often little known, either in the clinic or laboratory. The considerable heterogeneity in clinical expression within families as well as between families means that asymptomatic homozygotes may not be recognized or can present at any time from early childhood through adolescence up to their eighth decade. Consequently, all siblings should be screened. These disorders should be suspected in any case of unexplained anaemia, failure to thrive, susceptibility to recurrent infection, or neurological deficits with no current diagnosis, including autism, cerebral palsy, delayed development, deafness, epilepsy, self\u2010mutilation, muscle weakness, the inability to walk or talk, and \u2010 unusual in children and adolescents \u2010 gout, sometimes with renal disease. Some disorders present with radiolucent kidney stones, in acute or chronic renal failure, alone or with any of the above, or as an intolerance\/sensitivity to therapy (e.g. 5\u2010fluorouracil in malignancies or azathioprine immunosuppression in organ transplantation), often with life\u2010threatening consequences. Several parameters need to be evaluated to ensure correct diagnosis. Pitfalls which can mask diagnosis using only a single test are renal failure, blood transfusion, diet or drugs.<\/jats:p>","DOI":"10.1023\/a:1005308923168","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"214-226","source":"Crossref","is-referenced-by-count":52,"title":["When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications"],"prefix":"10.1002","volume":"20","author":[{"given":"H. A.","family":"Simmonds","sequence":"first","affiliation":[{"name":"Purine Research Laboratories, UMDS Guy's Hospital  London Bridge SE1 9RT UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. A.","family":"Duley","sequence":"additional","affiliation":[{"name":"Purine Research Laboratories, UMDS Guy's Hospital  London Bridge SE1 9RT UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. D.","family":"Fairbanks","sequence":"additional","affiliation":[{"name":"Purine Research Laboratories, UMDS Guy's Hospital  London Bridge SE1 9RT UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. B.","family":"McBride","sequence":"additional","affiliation":[{"name":"Purine Research Laboratories, UMDS Guy's Hospital  London Bridge SE1 9RT UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1997,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"820","article-title":"Correct splicing despite mutation of the invariant first nucleotide of a 5\u2032 splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency","volume":"54","author":"Arrenondo\u2010Vega FX","year":"1994","journal-title":"Am J Hum 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