Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever

Ertuğrul KIYKIM1, Ayşe Çiğdem AKTUĞLU ZEYBEK1, Kenan BARUT2, Tanyel ZÜBARİOĞLU1, Mehmet Şerif CANSEVER3, Şeyda ALSANCAK4, Özgür KASAPÇOPUR2

1Department of Pediatrics Division of Nutrition and Metabolism, İstanbul University Cerrahpaşa Medical Faculty, İstanbul, Turkey
2Department of Pediatrics Division of Rheumatology, İstanbul University Cerrahpaşa Medical Faculty, İstanbul, Turkey
3Central Laboratory, İstanbul University Cerrahpaşa Medical Faculty, İstanbul, Turkey
4Department of Biochemistry, Düzen Laboratories Group, İstanbul, Turkey

Abstract

Objectives: This study aims to demonstrate the patterns of free carnitine (FC) and acylcarnitine (AC) esters in familial Mediterranean fever (FMF) patients.
Patients and methods: A total of 205 patients (106 males, 99 females; mean age 131.3±52.1 months; range 24 to 254 months) with FMF and 50 healthy controls (27 males, 23 females; mean age 125.7±49.6 months; range 32 to 217 months) were enrolled. Fasting dried blood samples were taken for showing FC and AC ester levels with tandem mass spectrometry from both patients and controls.
Results: Screening of AC profile revealed increased FC, 3-hydroxypalmitoylcarnitine (C16-OH), and 3-Hydroxy octadecanoylcarnitine (C18:2-OH) carnitine levels, while decreased acetyl-carnitine (C2), propionyl-carnitine (C3), butyryl-carnitine (C4), tiglyl-carnitine (C5:1), hexanoyl-carnitine (C6), octanoyl-carnitine (C8), decenoylcarnitine (C10:1), decadienoylcarnitine (C10:2), malonylcarnitine (C3DC), methylmalonylcarnitine (C4DC), glutarylcarnitine (C5DC), hexadecenoylcarnitine (C16:1), 3-Hydroxy butyrylcarnitine (C4-OH), and 3-Hydroxy oleylcarnitine (C18:1-OH) carnitine levels in FMF patients compared to controls. Total AC levels (p<0.001) and AC to FC ratio (p<0.001) were also lower in FMF patients than the controls.
Conclusion: In this study, we were able to detect some of the AC profile variations in FMF patients; however, usage of carnitine in all patients with FMF is not recommended since we were not able to demonstrate secondary carnitine deficiency in FMF patients of this study.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.