Incomplete palmitate oxidation. Possible source of human myopathy

J. B. Shumate, M. H. Brooke, J. E. Carroll and R. M. Choksi

A study of palmitate oxidation in 200 consecutive human muscle biopsy specimens showed 14 patients in whom there was abnormal, incomplete palmitate oxidation when the rate of oxidation of palmitate 14C (ul) was compared with that of palmitate 14C (at carbon 1). Five patients had denervation as a primary diagnosis, and the remaining nine had a primary muscle disease. Of this latter group, six had clinical similarities, including proximal weakness, necrotic fibers on muscle biopsy, and extreme elevations of serum creatine kinase. With one exception, lipid storage was not part of the syndrome. The possibility of incomplete palmitate oxidation due to a defect in beta-oxidation producing a human myopathy is discussed.