title: [Inborn errors of purine and pyrimidyne metabolism].
abstract: Inborn errors of purine and pyrimidine metabolism (P/P) manifest themselves by a variety of clinical picture. They may be recognized at any age and may affect any system--immunological, hematological, neurological, musculoskeletal, and because of the relative insolubility of purine bases, renal as well. At present, a total of 30 defects have been described. Fifteen of them can have serious clinical consequences. Analysis of prevalence estimated by comparing the number of detected P/P patients in Poland and the number of newborns as well as delay of diagnosis, point at insufficient degree of detectability of these defects in our country. It is necessary to improve the education among physicians as well as to popularize screening methods for these defects.
authors.affiliation: Katedra Biologii Molekularnej, Uniwersytet Gdański, Gdańsk. ajurecka@gmail.com
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jurecka
mesh_terms: D057210:Delayed Diagnosis; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening / Q000458:organization & administration; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology