engleski

Carnitine palmitoyl transferase type 2 deficiency. Case report and the review of literature

Carnitine palmitoyl transferase (CPT) deficiency is a relatively rare disease of fatty acid oxidation inherited autosomal recessively. CPT2 deficiency presents frequently in adults with rhabdomyolysis and myoglobinuria triggered most often by prolonged exercise. Carnitine is required for the transfer of long-chain 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 often 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, caffeine, toxins, infections, inflammatory muscle diseases, and exertion). Here we present a female patient with CPT2 deficiency diagnosed after 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. This example illustrates the importance of carefully monitoring of patient with increased levels of CK, even when there are no evident clinical, pathohistological, nor electromyoneurographic (EMNG) indicators of myopathy.

palmitoyl transferase ; rhabdomyolisis ; carnitine

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