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Case Reports
. 2004 May;27(5):675-6.
doi: 10.1111/j.1540-8159.2004.00507.x.

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

Renske S Rijlaarsdam  1 , Francjan J van Spronsen, Margreet Th E Bink-Boelkens, Dirk-Jan Reijngoud, Ronald J A Wanders, Klary E Niezen-Koning, Fjodor H Van der Sluijs, Bert Dorland, Gertie C M Beaufort-Krol
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Case Reports

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

Renske S Rijlaarsdam et al. Pacing Clin Electrophysiol. 2004 May.

Abstract

This case report describes ventricular fibrillation without overt cardiomyopathy as the presenting symptom of primary carnitine deficiency due to organic cation transporter 2 (OCTN2)-deficiency in a 15-year-old girl. Normally this disease presents early in life with hypoketotic hypoglycemia, muscle weakness, and/or cardiomyopathy. The patient fully recovered after carnitine supplementation. Recognition of this disease is important because its treatment is easy and effective.

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