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Carnitine palmityl transferase deficiency

Clinical variability, carrier detection, and autosomal-recessive inheritance

Department of Neurology (Drs Angelini, Freddo, Battistella, Bresolin, and Armani, and Ms. Vergani), University of Padua, Regional Center for Neuromuscular Diseases, and CNR Center for Muscle Biology and Physiopathology (Ms. Pierobon-Bormioli). University of Padua, Padua, Italy.

A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.

Address correspondence and reprint requests to Dr. Angelini, Department of Neurology, Via Giustiniani 6, University of Padova. 35100 Padova, Italy.

This work was supported in part by an MDA grant and CNR (hint No. 79.01822.04.

Accepted for publication October 9, 1980

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				R. I. Kieval, A. Sotrel, and M. E. Weinblatt Chronic Myopathy With a Partial Deficiency of the Carnitine Palmityltransferase Enzyme Arch Neurol, May 1, 1989; 46(5): 575 - 576. [Abstract] [PDF]