{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:09:56Z","timestamp":1782212996201,"version":"3.54.5"},"reference-count":42,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0298_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from infancy to adulthood, characterised by recurrent rhabdomyolysis episodes. The study aimed to investigate the clinical features, biochemical, histopathological, and genetic findings of 13 patients diagnosed with the myopathic form of\u00a0CPT II deficiency at Ege University Hospital.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0298_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective study was conducted with 13 patients with the myopathic form of CPT II deficiency. Our study considered demographic data, triggers of recurrent rhabdomyolysis attacks, biochemical metabolic screening, and molecular analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0298_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Ten patients were examined for rhabdomyolysis of\u00a0unknown causes. Two patients were diagnosed during family screening, and one was diagnosed during investigations due to increased liver function tests. Acylcarnitine profiles were normal in five patients during rhabdomyolysis. Genetic studies have identified a c.338C&gt;T (p.Ser113Leu) variant homozygous in 10 patients. One patient showed a novel frameshift variant compound heterozygous with c.338C&gt;T (p.Ser113Leu).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0298_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Plasma acylcarnitine analysis should be preferred as it is superior to DBS acylcarnitine analysis in diagnosing CPT II deficiency. Even if plasma acylcarnitine analysis is impossible, <jats:italic>CPT2<\/jats:italic> gene analysis should be performed. Our study emphasizes that CPT II deficiency should be considered in the differential diagnosis of recurrent rhabdomyolysis, even if typical acylcarnitine elevation does not accompany it.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0298","type":"journal-article","created":{"date-parts":[[2023,11,5]],"date-time":"2023-11-05T20:21:03Z","timestamp":1699215663000},"page":"33-41","source":"Crossref","is-referenced-by-count":3,"title":["Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2564-7420","authenticated-orcid":false,"given":"Havva","family":"Yaz\u0131c\u0131","sequence":"first","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Ege University Faculty of Medicine , Izmir , 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