Carnitine palmitoyltransferase 2 deficiency, malignant hyperthermia and anesthesia

Background Carnitine palmitoyltransferase (CPT) deficiencies are a common autosomal recessive disorder resulting in a defect in mitochondrial fatty acid oxidation. The CPT system is made up of two separated proteins located in the outer CPT1 and inner CPT2 mitochondrial membranes. CPT1 catalyses the formation of acylcarnitine from carnitine and long chain fatty acyl-CoA. Acylcarnitine then crosses the inner mitochondrial membrane where it combines with CoA to form acyl-CoA, a process catalyzed by CPT2. Acyl-CoA is then available to undergo beta-oxidation. Deficiencies of both CPT1 and 2 have been described and leave patients unable to derive energy from fatty acid oxidation. Once immediate glucose and glycogen stores are exhausted, hypoglycemia may occur. This process conducts to rhabdomyolysis with muscle pains, hyperkalemia, metabolic acidosis and myoglobinuria. In severe severe cases acute renal failure, cardiac arrest and death ensure.