Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form

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dc.authoridSAKA GÜVENC, merve/0000-0001-8842-0381
dc.authoridAYKUT, Ayça/0000-0002-1460-0053
dc.authoridYoldas Celik, Merve/0000-0003-0015-9807
dc.authoridAk, Gunes/0000-0001-6780-1812
dc.authoridYAZICI, HAVVA/0000-0002-2564-7420
dc.authorwosidSAKA GÜVENC, merve/HJI-1076-2023
dc.authorwosidAYKUT, Ayça/ABH-6257-2020
dc.contributor.authorYazıcı, Havva
dc.contributor.authorAk, Günes
dc.contributor.authorYoldaş Çelik, Merve
dc.contributor.authorErdem, Fehime
dc.contributor.authorYüksel Yanbolu, Ayşe
dc.contributor.authorEr, Esra
dc.contributor.authorErgül Bozacı, Ayşe
dc.date.accessioned2024-08-25T18:36:00Z
dc.date.available2024-08-25T18:36:00Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractObjectives: 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 CPT II deficiency at Ege University Hospital. Methods: 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. Results: Ten patients were examined for rhabdomyolysis of unknown 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>T (p.Ser113Leu) variant homozygous in 10 patients. One patient showed a novel frameshift variant compound heterozygous with c.338C>T (p.Ser113Leu). Conclusions: 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, CPT2 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.en_US
dc.identifier.doi10.1515/jpem-2023-0298
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.pmid37925743en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2023-0298
dc.identifier.urihttps://hdl.handle.net/11454/100496
dc.identifier.wosWOS:001103931000001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240825_Gen_US
dc.subjectrhabdomyolysisen_US
dc.subjectmetabolic myopathyen_US
dc.subjectfatty acid oxidation disorderen_US
dc.subjectacylcarnitinesen_US
dc.subjectCPT IIen_US
dc.subjectMedical Geneticsen_US
dc.subjectRhabdomyolysisen_US
dc.subjectGenotypeen_US
dc.subjectVariantsen_US
dc.titleExperience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic formen_US
dc.typeArticleen_US

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