{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T05:48:15Z","timestamp":1747201695476,"version":"3.40.5"},"reference-count":0,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T00:00:00Z","timestamp":1591574400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Biochim Pol"],"abstract":"<jats:p>3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. The main symptoms included myopathy, weakness, spastic paresis intensified mostly in the lower limbs, and intellectual disability. Additional studies showed elevated levels of 3-methylglutaconic acid in urine and ammonia in plasma. A duplication in region 5q23.3q31.1 was found in array-based comparative genomic hybridization. Next-generation sequencing did not reveal any pathological mutation. On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplication 5q was diagnosed.<\/jats:p>","DOI":"10.18388\/abp.2020_5355","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T21:07:34Z","timestamp":1591650454000},"source":"Crossref","is-referenced-by-count":0,"title":["Coincidence of 3-methylglutaconic aciduria and duplication 5q \u2013 a case report and literature review"],"prefix":"10.3389","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9935-472X","authenticated-orcid":false,"given":"Pawe\u0142","family":"Zapolnik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Sykut-Cegielska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoni","family":"Pyrkosz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,6,8]]},"container-title":["Acta Biochimica Polonica"],"original-title":[],"link":[{"URL":"https:\/\/ojs.ptbioch.edu.pl\/index.php\/abp\/article\/download\/5355\/4570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ojs.ptbioch.edu.pl\/index.php\/abp\/article\/download\/5355\/4570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T13:43:21Z","timestamp":1716990201000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontierspartnerships.org\/articles\/10.18388\/abp.2020_5355\/pdf"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,8]]},"references-count":0,"URL":"https:\/\/doi.org\/10.18388\/abp.2020_5355","relation":{},"ISSN":["1734-154X","0001-527X"],"issn-type":[{"type":"electronic","value":"1734-154X"},{"type":"print","value":"0001-527X"}],"subject":[],"published":{"date-parts":[[2020,6,8]]}}}