| Autor: |
Rijlaarsdam, RS, van Spronsen, FJ, Bink-Boelkens, MTE, Reijngoud, DJ, Niezen-Koning, KE, Van der Sluijs, FH, Dorland, B, Beaufort-Krol, GCM |
| Přispěvatelé: |
Center for Liver, Digestive and Metabolic Diseases (CLDM) |
| Jazyk: |
angličtina |
| Rok vydání: |
2004 |
| Předmět: |
|
| Zdroj: |
Pace-Pacing and Clinical Electrophysiology, 27(5), 675-676. Wiley |
| ISSN: |
0147-8389 |
| Popis: |
This case report describes ventricular fibrillation without overt cardiomyopathy us 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 suppletion. Recognition of this disease is important because its treatment is easy and effective. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Plný text