Myopathy Due to Carnitine Deficiency

Abstract

Scientific Background: Myopathy due to carnitine deficiency is a rare, slowly progressive disease with relapsing remitting periods. Myalgia and exercise intolerance are the main presenting symptoms of the disease. Objective: The importance of muscle biopsy especially for the diagnosis of metabolic disorders must be taken into consideration in patients with exercise intolerance .. Materials and Methods: The patient with egzercise intolerance in this study has been evaluated ,but no pathological finding has been found in neurological examination ,laboratory and electrophysiological investigations. The muscle biopsy for differential diagnosis showed the lipid vacuoles in muscle fibers withoil-red-lipid dye which is an evidence of lipid metabolism disorder. The serum total carnitine level is detected as 19µmol/I (normal:40-75), free carnitine level was 18 µmol/I (>30). Our case was diagnosed as myopathy due to carnitine deficiency with his clinical and pathological findings. His symptoms improved with oral carnitine replacement and poor diet for long chain fatty acids. Conclusion: It has been emphasized once more with our case that this metabolic disorder which must be taken into consideration in differential diagnosis of exercise intolerance and myalgia is diagnosed by muscle biopsy. We are also presenting a case who has responded the carnitine therapy well in the earlystage of disease, so early diagnosis of myopathy due to carnitine deficiency is important.