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Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy

College of Medicine (Dr. Prockop), University of South Florida, Tampa, FL, the National Institutes of Health (Dr. Engel), Bethesda, MD, and the School of Medicine, University of Wisconsin and Madison VA Hospital (Dr. Shug), Madison, WI.

A 23-year-old woman became quadriplegic and respirator-dependent after 18 years of weakness and rhabdomyolysis. Her muscle tissue and that of a deceased sister contained lipid-laden fibers. Treatment with D, L-carnitine 4 grams per day was followed by a dramatic improvement within 10 days. Muscle function was normal at 8 months and has remained so during 3 subsequent years of L-carnitine 3 grams per day. Pretreatment muscle biopsy had documented low levels of free carnitine and short-chain acylcarnitine compounds. Carnitine palmityltransferase was slightly elevated. The asymptomatic parents had low-normal muscle carnitine levels, slight increase in muscle fiber lipid droplets, osmiophilic lipid-laden Schwann's cell vacuoles, and myelin lamellae with different periodicities.

Address correspondence and reprint requests to Dr. Prockop, Box 55, 12901 N. 30th Street, Tampa, FL 33612.

Accepted for publication April 13, 1983.

This article has been cited by other articles:

				R. Pons and D. C. De Vivo Primary and Secondary Carnitine Deficiency Syndromes J Child Neurol, November 1, 1995; 10(2_suppl): 2S8 - 2S24. [Abstract] [PDF]