Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone Production

Abstract

RECURRENT rhabdomyolysis is a feature of conditions in which skeletal-muscle metabolism of carbohydrates is defective, as in deficiency of muscle phosphorylase1 , 2 and phosphofructokinase.3 In addition, two patients have been described in whom recurrent myoglobinuria resulted from an impairment in fat oxidation due to a deficiency of carnitine palmitoyltransferase in skeletal muscle.4 These patients also demonstrated diminished ketone production in spite of high levels of plasma free fatty acids and increasing plasma triglyceride levels during prolonged fasting, suggesting a deficiency of carnitine palmitoyltransferase in the liver.4 We report below the clinical and biochemical findings in a patient with recurrent myoglobinuria and . . .