{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T16:55:10Z","timestamp":1775321710734,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"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":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Muscle magnetic resonance imaging (MRI) is a useful tool for visualizing abnormalities in neuromuscular disorders. The value of muscle MRI has not been studied in long\u2010chain fatty acid oxidation (lcFAO) disorders. LcFAO disorders may present with metabolic myopathy including episodic rhabdomyolysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate whether lcFAO disorders are associated with muscle MRI abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Lower body MRI was performed in 20 patients with lcFAO disorders, i.e. three carnitine palmitoyltransferase 2 deficiency (CPT2D), 12 very long\u2010chain acyl\u2010CoA dehydrogenase deficiency (VLCADD), three mitochondrial trifunctional protein deficiency (MTPD) and two isolated long\u2010chain hydroxyacyl\u2010CoA dehydrogenase deficiency (LCHADD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>At the time of MRI, four patients had muscle weakness, 14 had muscle pain and 13 were exercise intolerant. Median creatine kinase (CK) level of patients at the day of MRI was 398 U\/L (range 35\u201012,483). T1W and STIR signal intensity (SI) were markedly increased in MTPD patients from girdle to lower leg. VLCADD patients showed predominantly proximal T1W SI changes, whereas LCHADD patients mostly showed distal T1W SI changes. Prominent STIR weighted signal intensity increases of almost all muscle groups were observed in patients with VLCADD and LCHADD with very high CK (&gt;11.000) levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and relevance<\/jats:title><jats:p>lcFAO disorders are associated with specific patterns of increased T1W and STIR signal intensity. These patterns may reflect lipid accumulation and inflammation secondary to lcFAO defects and progressive muscle damage. Future studies are needed to investigate whether muscle MRI might be a useful tool to monitor disease course and to study pathogenesis of lcFAO related myopathy.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-013-9666-3","type":"journal-article","created":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T18:51:25Z","timestamp":1386183085000},"page":"405-413","source":"Crossref","is-referenced-by-count":29,"title":["Muscle MRI in patients with long\u2010chain fatty acid oxidation disorders"],"prefix":"10.1002","volume":"37","author":[{"given":"Eugene F.","family":"Diekman","sequence":"first","affiliation":[{"name":"Department of Paediatric Gastroenterology and Metabolic Diseases Wilhelmina Children's Hospital, UMC Utrecht KC 03.063.0, Lundlaan 6, 3584 EA Utrecht The Netherlands"},{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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