Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.
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.
Rijlaarsdam
Renske S
RS
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, Groningen, The Netherlands.
van Spronsen
Francjan J
FJ
Bink-Boelkens
Margreet Th E
MT
Reijngoud
Dirk-Jan
DJ
Wanders
Ronald J A
RJ
Niezen-Koning
Klary E
KE
Van der Sluijs
Fjodor H
FH
Dorland
Bert
B
Beaufort-Krol
Gertie C M
GC
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*
D002352:Carrier Proteins; D008565:Membrane Proteins; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine