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.
ASJC Scopus subject areas
- Clinical Neurology