BackgroundMetabolic myopathies should be considered in patients with recurrent rhabdomyolysis, one episode triggered by prolonged fasting, fever or infection, symptoms such as myalgia or exercise intolerance, and otherwise unexplained serum CK elevation. The defects of long-chain fatty acid beta-oxidation are one of common causes of metabolic myopathy in childhood. With the exception of carnitine palmitoyltransferase II (CPT II) deficiency, the most common cause, there is a rather rare mitochondrial trifunctional protein (MTP) deficiency.
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