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 phosphorylase^{1 , 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 . . .