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NEUROLOGY 1980;30:618
© 1980 American Academy of Neurology

Carnitine "deficiency"

Lack of response to carnitine therapy James E. Carroll, M.D., Michael H. Brooke, M.D., Darryl C. DeVivo, M.D., Jack B. Shumate, M.D., Rüdiger Kratz, M.D., Steven P. Ringel, M.D. and James M. Hagberg, Ph.D.

Departments of Neurology and Neurosurgery (Neurology) and Pediatrics (Drs. Carroll and DeVivo), the Department of Neurology and Neurosurgery (Drs. Brooke, Shumate, and Kratz), and the Department of Preventive Medicine (Dr. Hagberg), Washington University School of Medicine, St. Louis, MO, and the Department of Neurology (Dr. Ringel), University of Colorado Medical Center, Denver, CO.

A 29-year-old woman had muscle weakness, low concentrations of carnitine in muscle and serum, and abnormally low urinary excretion of carnitine. During a fast, exercise capacity declined, ketone body concentrations rose, metabolic acidosis worsened, and she became hypoglycemic. After treatment with oral carnitine, serum carnitine content returned to normal and blood glucose was maintained during fasting, but ketone body concentrations in blood were even higher. Muscle carnitine content and exercise capacity did not improve. This patient demonstrated features of both systemic and muscle carnitine deficiency, suggesting that the current classification of carnitine-deficiency syndromes is inadequate.

Address correspondence and reprint requests to Dr. Carroll, Department of Neurology, Washington University School of Medicine, 660 S. Euclid, Box 8111, St. Louis, MO 63110.

Presented at the thirty-first annual meeting of the American Academy of Neurology, Chicago, April 1979.

This study was supported by a center grant from the Muscular Dystrophy Association and USPHS grant No. RR-00036 from the Division of Research Facilities and Resources. Dr. Carroll is the recipient of an NINCDS Teacher-Investigator Award; Dr. Hagberg is supported by NIH Fellowship No. HL5689.

Accepted for publication September 6, 1979

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