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Carnitine palmityl transferase deficiency

Myoglobinuria and respiratory failure

Departments of Neurology and Pathology (Drs. Bertorini and Stadlan), Physiology (Dr. Yeh), and Medicine (Dr. Sabesin), University of Tennessee Center for the Health Sciences, and St. Jude Children's Research Hospital, Memphis, TN (Drs. Bertorini and Yeh), and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY (Drs. Trevisan and DiMauro).

A 51-year-old man presented with acute respiratory failure and myoglobinuria precipitated by an infection. Carnitine palmityltransferase (CPT) deficiency was documented in muscle, leukocytes, and liver. "he enzyme defect in liver, previously suspected and now documented, explained the decreased production of ketone bodies during fasting observed in this patient as well as others with muscle CFT deficiency. Decreased utilization of long-chain fatty acids and decreased availability of ketone bodies can deprive the muscle of crucial sources of energy and, in certain conditions, may precipitate myoglobinuria.

Address correspondence and reprint requests to Dr. Bertorini, Department of Neurology, University of Tennessee Center for the Health Sciences, 800 Madison Avenue, Memphis TN 38163.

Accepted for publication August 13, 1979

This study was supported in part by Center grants Nos. NS-11766-05 from the National Institute of Neurological and Communicative Disorders and Stroke, and from the Muscular Dystrophy Association. Dr. Trevisan is a recipient of a postdoctoral fellowship from the Muscular Dystrophy Association.

This article has been cited by other articles:

				K.R. Nelson, J.M. Ray, D. Wilson, and D.G. Davis Motor Unit Potential Analysis in Carnitine Palmitoyl Transferase Deficiency J Child Neurol, October 1, 1990; 5(4): 350 - 351. [PDF]

				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]