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Carnitine deficiency of skeletal muscle

Report of a treated case

From the Department of Neurology, National Research Council Unit for Muscle Biology and Physiopathology, Institute of General Pathology, Department of Pediatrics, University of Padova, Italy.

We studied a 10-year-old girl with an insidious muscle disease beginning at age 7. Muscle biopsy showed that the majority of type I fibers were vacuolated and contained lipid excess. Carnitine deficiency was found in skeletal muscle. The patient was treated with 3.0 gm L-carnitine per day and with a medium-chain triglyceride diet. She showed a rapid improvement and recovery of strength. A muscle biopsy 8 months later showed a decreased lipid content. Oral carnitine replacement represents an effective treatment for the disease.

Requests for reprints should be addressed to Dr. Angelini, Department of Neurology, Via Giustiniani 6, University of Padova, Padova, Italy.

This study was supported by grants from the Muscular Dystrophy Associations of America.

This paper was presented in part at the twenty-seventh annual meeting of the American Academy of Neurology, Bal Harbour, Florida, May 1975.

Received for publication September 24, 1975.

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