{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:10:14Z","timestamp":1781611814746,"version":"3.54.5"},"reference-count":0,"publisher":"The Endocrine Society","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Plasma acylcarnitines are biomarkers of beta-oxidation and are useful in diagnosing several inborn errors of metabolism but has never been systematically investigated in patients with mitochondrial myopathy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We hypothesized that acylcarnitines can also be biomarkers of mitochondrial myopathy and sought to investigate the prevalence and pattern of elevated acylcarnitines.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>The study was a prospective cohort study of patients with confirmed mitochondrial myopathy followed at Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen, Denmark<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients<\/jats:title>\n                  <jats:p>We included 35 patients (44\u00b115 years, 15 women) with mitochondrial myopathy caused by single, large-scale deletions of mt-DNA (n=17), pathogenic variants in mt-tRNA (n=13) or in proteins of the respiratory chain complexes (n=5).<\/jats:p>\n                  <jats:p>Concentrations of 35 acylcarnitines were measured using ultra-high-performance liquid-chromatography and tandem mass-spectrometry. Findings were compared to muscle mutation load in all patients, and to respiratory chain activity in 26 patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main outcome measures<\/jats:title>\n                  <jats:p>Prevalence of elevated concentrations of acylcarnitines related to acyl-CoA dehydrogenases in patients with mitochondrial myopathy and relation to geno-\/phenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In total, 27 (77%) patients had elevated concentrations of acylcarnitines related to acyl-CoA dehydrogenases. Elevated concentrations of seven acylcarnitine species were significantly more common in patients compared to a control cohort of&gt; 900 individuals, and a specific pattern involving hydroxylated long-chain acylcarnitines occurred in 22 (63%) patients. Severity of derangements was correlated with muscle mutation load and geno-\/phenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In conclusion, elevated concentrations of acylcarnitines is common in patients with mitochondrial myopathy and shows a specific pattern affecting hydroxylated long-chain acylcarnitines, which can have implications for future diagnostic work-up of patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2019-00721","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T13:05:54Z","timestamp":1562850354000},"source":"Crossref","is-referenced-by-count":14,"title":["Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy"],"prefix":"10.1210","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0834-206X","authenticated-orcid":false,"given":"Christoffer Rasmus","family":"Vissing","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9742-8115","authenticated-orcid":false,"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-8544","authenticated-orcid":false,"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,7,11]]},"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/jc.2019-00721\/28920617\/jc.2019-00721.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"}],"deposited":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T13:05:55Z","timestamp":1562850355000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article\/doi\/10.1210\/jc.2019-00721\/5530223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1210\/jc.2019-00721","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,11]]},"article-number":"jc.2019-00721"}}