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Hereditary carnitine deficiency of muscle

Departments of Neurology and Pediatrics, University of Rochester School of Medicine, Rochester, New York, the Departments of Neurology and Pathology, University of Kentucky College of Medicine, Lexington, and the Department of Neurology, College of Physicians and Surgeons, Columbia University, New York City.

An eight-year-old boy with slowly progressive muscle weakness was found to have Oil red O positive vacuoles in predominantly type I muscle fibers. Subsequent studies demonstrated markedly reduced skeletal muscle carnitine (0.24 µmoles per gram; normal 1.64 to 3.34). Serum carnitine was normal. Although both parents were clinically normal, muscle carnitine levels were low in both (mother 0.60; father 0.90 µmoles). There was no clinical evidence of cardiac disease but the patient had ventricular hypertrophy by electrocardiography, vectorcardiography, and echocardiography. Treatment with prednisone resulted in clinical improvement but no change in muscle histology. Our studies suggest that the carnitine deficiency of muscle in this case may be due to impaired carnitine entry into muscle and that this form of disease can be inherited as an autosomal recessive disorder.

Supported in part by grants from the Muscular Dystrophy Associations of America, by USPHS grants RR 00044 and 5T01-N505084–13, and by the American Cancer Society, Kentucky Division.

Presented in part at the twenty-sixth annual meeting of the American Academy of Neurology, San Francisco, April 1974.

Received for publication July 8, 1974.

Reprint requests should be addressed to Dr. VanDyke at Department of Neurology, Strong Memorial Hospital, 260 Crittenden Blvd., Rochester, NY 14642.

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