Carnitine and the Twins

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Abstract
ENGEL and his co-workers describe in this issue a symptomatic skeletal-muscle disorder in identical twins that appears to be associated with a defect in long-chain fatty acid metabolism. The syndrome is characterized by aching muscle cramps without weakness and is precipitated by fasting, exercise or a high fat diet. The symptoms are also associated with increased levels of a number of serum enzymes that suggest muscle damage. Biochemical dissection of this syndrome reveals that in the fasted state, in which plasma free fatty acid (FFA) levels and their oxidative utilization are normally augmented, an impaired capacity to manifest ketonemia and . . .

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