title: Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.
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.
authors.affiliation: Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, Groningen, The Netherlands.
authors.forename: Renske S
authors.initials: RS
authors.lastname: Rijlaarsdam
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: Margreet Th E
authors.initials: MT
authors.lastname: Bink-Boelkens
authors.forename: Dirk-Jan
authors.initials: DJ
authors.lastname: Reijngoud
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Klary E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: Fjodor H
authors.initials: FH
authors.lastname: Van der Sluijs
authors.forename: Bert
authors.initials: B
authors.lastname: Dorland
authors.forename: Gertie C M
authors.initials: GC
authors.lastname: Beaufort-Krol
mesh_terms: D000293:Adolescent; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use*; D002352:Carrier Proteins; D003241:Consanguinity; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency*; D027701:Organic Cation Transport Proteins; D000074058:Solute Carrier Family 22 Member 5; D014693:Ventricular Fibrillation / Q000209:etiology*
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine