Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.

Abstract excerpt

INTRODUCTION: The occurrence of repeated and progressive rhabdomyolysis is rare in clinical settings, particularly in adults. The pathogenesis of rhabdomyolysis is often overlooked due to its rapid recovery. Carnitine palmitoyltransferase (CPT) II deficiency could be a rare etiology of repetitive nontraumatic rhabdomyolysis, and several mutations of CPT II have been reported. PATIENT CONCERNS: A 41-year-old man...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Carnitine O-Palmitoyltransferase
• Share to Metabolism, Inborn Errors