A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

MITOCHONDRIAL oxidation of fatty acids provides the chief source of energy during prolonged fasting as well as for cardiac muscle and skeletal muscle during exercise. In the past decade, 10 genetic defects of this pathway have been recognized in infants and children.^{1 2 3 4 5 6 7} Although each of these disorders is rare, failure to recognize them can deprive patients of lifesaving therapy. Patients with these defects present with coma after a period of starvation and have hypoketosis — that is, their serum ketone concentrations are low. They may also have cardiomyopathy and muscle weakness. Three of the disorders affect the carnitine cycle, illustrated…