{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:05:17Z","timestamp":1784714717239,"version":"3.55.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 (&lt;i&gt;SLC22A5&lt;\/i&gt;) gene that encodes a high-affinity sodium-ion-dependent organic cation transporter protein (OCTN2). Carnitine deficiency can result in acute metabolic decompensation or, in a more insidious presentation, cardiomyopathy. Cardiomyopathy associated with PCD often presents with life-threatening heart failure. This presentation also usually includes skeletal muscle myopathy. Early recognition of this disorder and treatment with carnitine can avoid life-threatening complications related to cardiomyopathy. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Herein, we present a 10-month-old male patient with PCD, which was diagnosed while investigating the etiology of dilated cardiomyopathy and confirmed by molecular genetic analysis. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Homozygous c.254_265 insGGCTCGCCACC (p.I89Gfs) pathogenic variant of the &lt;i&gt;SLC22A5&lt;\/i&gt; gene was detected. With oral L-carnitine supplementation, the free carnitine level increased up to 14 \u03bcmol\/L and the symptoms disappeared. LVEF increased by 45\u201370%. We would like to emphasize that this problem is a combination of the metabolic decompensation and the cardiac phenotypes, which are usually separated to either phenotype. <\/jats:p>","DOI":"10.1159\/000534932","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T22:00:32Z","timestamp":1701122432000},"page":"156-160","source":"Crossref","is-referenced-by-count":4,"title":["A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency"],"prefix":"10.1159","volume":"15","author":[{"given":"Hacer","family":"Basan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Azak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130brahim \u0130lker","family":"\u00c7etin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berrak","family":"Bilginer G\u00fcrb\u00fcz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00fcmeyra Zeynep","family":"\u00d6zbey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,11,27]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/156\/4188634\/000534932.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/156\/4188634\/000534932.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:52:02Z","timestamp":1745423522000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000534932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,27]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4,2]]},"published-print":{"date-parts":[[2024,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000534932","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,27]]}}}