Carnitine palmitoyl transferase type 2 defi ciency -case report and review of the literature

ABSTRACT -Carnitine palmitoyl transferase (CPT) defi ciency is a relatively rare disease of fatty acid oxidation inherited autosomal recessively. CPT2 defi ciency presents frequently in adults with rhabdomyolysis and myoglobinuria triggered most oft en by prolonged exercise. Carnitine is required for the transfer of longchain fatty acids from the cytoplasm to the mitochondrial matrix for their oxidation. Strenuous exercise is known to increase serum creatine kinase (CK) in nearly all healthy people and can be elevated oft en over ten times the upper limit of normal. Rhabdomyolysis can be of inherited etiology (disorders of glycogenolysis, fatty acid oxidation, mitochondrial respiratory chain pathways) or acquired (trauma, compartment syndrome, drugs, caff eine, toxins, infections, infl ammatory muscle diseases, and exertion). Here we present a female patient with CPT2 defi ciency diagnosed aft er recurrent rhabdomyolysis upon physical exertion and carbohydrate-restrictive diet. With the implementation of dietary measures and lifestyle changes that included more frequent but shorter interval exercise and avoidance of inappropriate physical exertion, the patient had a normal neurological status with only slightly elevated CK levels. Th is example illustrates the importance of careful monitoring of patients with increased levels of CK, even when there are no evident clinical, histopathologic or electromyoneurography (EMNG) indicators of myopathy