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NEUROLOGY 1984;34:157
© 1984 American Academy of Neurology

Systemic carnitine deficiency

Clinical, biochemical, and morphological cure with L-carnitine

Stefano Di Donato, MD, Dionisio Pelucchetti, MD, Marco Rimoldi, MS, Marina Mora, MS, Barbara Garavaglia, MS and Gaetano Finocchiaro, MD

From the Laboratory of Neurometabolic Disease (Drs. Di Donato and Finocchiaro, Mr. Rimoldi, and Ms. Garavaglia) and the Neuromuscular Disease Service (Dr. Pelucchetti and Ms. Mora), Istituto Neurologico "C. Besta," Milan, Italy.

A 20-year-old woman had systemic carnitine deficiency. Biochemical studies of cultured fibroblasts, skeletal muscle mitochondria, and fluids showed no evidence of other disease that might deplete tissue carnitine stores. Carnitine supplementation produced a dramatic improvement in her clinical condition: she gained weight and strength and recovered brain function, which had deteriorated slightly after repeated episodes of encephalopathy. Lipid droplets disappeared from skeletal muscle and plasma, and muscle carnitine content rose from low to normal values. On treatment, she excreted less carnitine than controls. This form of systemic carnitine deficiency may be due to defective carnitine biosynthesis.

Address correspondence and reprint requests to Dr. Di Donato, Laboratory of Neurometabolic Disease, Istituto Neurologico "C. Besta," via Celoria 11,20133 Milan, Italy.

This research was carried out under a grant from the Muscular Dystrophy Association USA and the research grant CT 81.00146.04 from the Consiglio Nazionale delle Ricerche, Rome.

Presented in part at the Fifth International Congress on Neuromuscular Disease, Marseilles, France, September 1982.

Accepted for publication April 26, 1983.






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