{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T03:23:29Z","timestamp":1768620209552,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T00:00:00Z","timestamp":1283472000000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Isolated long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency (LCHADD) is associated with c.1528G&gt;C substitution in the <jats:italic>HADHA<\/jats:italic> gene, since most patients have the prevalent mutation on at least one allele. As it is known that the disease is relatively frequent in Europe, especially around the Baltic Sea, and that the majority of Polish LCHADD patients originate from the coastal Pomeranian province, partly inhabited by an ancient ethnic group, the Kashubians, we aimed to determine the carrier frequency of the prevalent <jats:italic>HADHA<\/jats:italic> mutation in various districts of Poland with special focus on the Kashubian district. A total of 6,854 neonatal dried blood samples from the entire country, including 2,976 Pomeranian neonates of Kashubian origin, were c.1528G&gt;C genotyped. Fifty\u2010nine heterozygous carriers for the prevalent c.1528G&gt;C substitution (41 Pomeranian children) were detected in the studied group. Our data reveal a geographically skewed distribution of the c.1528C allele in the Polish population; in the northern Pomeranian province the carrier frequency is 1:73, which is the highest frequency ever reported, whereas in the remaining regions it is 1:217. Hence, the incidence of LCHADD in Poland is predicted to be 1:118,336 versus 1:16,900 in the Pomeranian district. Despite the relative rarity of the disease, screening for LCHADD in neonates born in the northern part of Poland, especially those of Kashubian origin, is justified. Our data allow us to suggest a probable Kashubian origin of the prevalent c.1528G&gt;C mutation.<\/jats:p>","DOI":"10.1007\/s10545-010-9190-7","type":"journal-article","created":{"date-parts":[[2010,9,2]],"date-time":"2010-09-02T17:31:09Z","timestamp":1283448669000},"page":"373-377","source":"Crossref","is-referenced-by-count":21,"title":["A comprehensive <i>HADHA<\/i> c.1528G&gt;C frequency study reveals high prevalence of long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency in Poland"],"prefix":"10.1002","volume":"33","author":[{"given":"Dorota","family":"Piekutowska\u2010Abramczuk","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke K. J.","family":"Olsen","sequence":"additional","affiliation":[{"name":"Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby and Faculty of Health Sciences Aarhus University Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Wierzba","sequence":"additional","affiliation":[{"name":"Department of General Nursery and Department of Pediatrics, Hematology, Oncology and Endocrinology Medical University of Gda\u0144sk Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Popowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Jurkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariusz","family":"O\u0142tarzewski","sequence":"additional","affiliation":[{"name":"Screening and Hormonal Laboratory Institute of Mother and Child Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanda","family":"Gradowska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Experimental Medicine The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Krajewska\u2010Walasek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brage S.","family":"Andresen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology University of Southern Denmark Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby and Faculty of Health Sciences Aarhus University Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Pronicka","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03195716"},{"key":"e_1_2_6_3_1","first-page":"81","article-title":"Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency","volume":"19","author":"Choi JH","year":"2007","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.062000"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200008000-00006"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.1.99"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0228-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711779"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005506024055"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118863"},{"key":"e_1_2_6_11_1","unstructured":"MordawskiJ(1999)Historia geografia i pi\u015bmiennictwo Kaszub\u00f3w.In:Ro\u017cakM(eds)Geografia wsp\u00f3\u0142czesnych Kaszub. Gda\u0144sk."},{"key":"e_1_2_6_12_1","article-title":"High carrier frequencies in Poland and Denmark for the prevalent 1528G>C mutation causing long\u2010chain 3\u2010hydroxy\u2010acyl\u2010CoA dehydrogenase deficiency (LCHADD)","volume":"68","author":"Piekutowska\u2010Abramczuk D","year":"2005","journal-title":"6th International Congress on Fatty Acid Oxidation \u2014Clinical, Biochemical and Molecular Aspects, 8\u201310 June 2005, Egmond aan Zee, the Netherlands. 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