Carnitine “deficiency”: Lack of response to carnitine therapy

James E. Carroll, Michael H. Brooke, Darryl C. DeVivo, Jack B. Shumate, Rüdiger Kratz, Steven P. Ringel, James M. Hagberg

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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 concen-trations 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 concen-trations 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.

Original languageEnglish (US)
Pages (from-to)618-626
Number of pages9
Issue number6
StatePublished - Jun 1980

ASJC Scopus subject areas

  • Clinical Neurology


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