Battling Recurrent Rhabdomyolysis in Carnitine Palmitoyltransferase II Deficiency

Abstract

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that impairs the mitochondrial oxidation of long-chain fatty acids, leading to decreased utilization of these fatty acids. The adult form of this condition is characterized by recurrent rhabdomyolysis, often exacerbated by exercise, fasting, extremes of temperature, and infections. This case study details a severe episode of rhabdomyolysis triggered by a chest infection in a patient with CPT II deficiency. It discusses the management strategies for such acute episodes, emphasizing the importance of immediate intervention and avoiding potential triggers to prevent severe complications. The findings highlight the necessity of proactive management and preventive measures to mitigate risks in affected individuals.