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

Havva Yazıcı; Gunes Ak; Merve Yoldas Çelik; Fehime Erdem; Ayse Yuksel Yanbolu; Esra Er; Ayse Ergül Bozacı; Merve Saka Güvenç; Ayca Aykut; Asude Durmaz; Ebru Canda; Sema Kalkan Uçar; Mahmut Çoker

doi:10.1515/jpem-2023-0298

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Article

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

Havva Yazıcı , Gunes Ak , Merve Yoldas Çelik , Fehime Erdem , Ayse Yuksel Yanbolu , Esra Er , Ayse Ergül Bozacı , Merve Saka Güvenç , Ayca Aykut , Asude Durmaz , Ebru Canda , Sema Kalkan Uçar and Mahmut Çoker

Published/Copyright: November 7, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 1

Abstract

Objectives

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.

Keywords: rhabdomyolysis; metabolic myopathy; fatty acid oxidation disorder; acylcarnitines; CPT II

Corresponding author: Havva Yazıcı, MD, Department of Inborn Errors of Metabolism, Ege University Faculty of Medicine, Izmir, Türkiye, Phone: +90 232 390 1001, Fax: +90 232 390 1357, E-mail: havvaya@gmail.com

Research ethics: The research related to human use has been compliedwith all the relevant national regulations, institutional policies and in accordance the tenets of the Helsinki Declaration, and has been approved by the local Ege University Ethics Committee.
Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
Author contributions: Conception or design of the work: Havva Yazıcı, Mahmut Çoker, Güneş Ak. Acquisition, analysis, or interpretation of data for the work: Havva Yazıcı, Merve Yoldas Çelik, Fehime Erdem, Ayse Yuksel Yanbolu, Esra Er, Ayse Ergül Bozacı, Merve Saka Güvenç, Ayca Aykut, Asude Durmaz, Ebru Canda, Sema Kalkan Uçar. The author(s) have (has) accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: The author(s) state(s) no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2023-06-23

Accepted: 2023-10-20

Published Online: 2023-11-07

Published in Print: 2024-01-29

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0298

Keywords for this article

rhabdomyolysis; metabolic myopathy; fatty acid oxidation disorder; acylcarnitines; CPT II