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

Open Access
Publisher Website
Google Scholar
Abstract
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 in Figure 1 , that transports long-chain fatty acids across the outer and inner mitochondrial membranes. These involve deficiencies of the plasma-membrane carnitine transporter2 and carnitine palmitoyltransferase types 16 and 2.7 This report describes an infant with a fourth defect of this carnitine cycle, one involving the carnitine—acylcarnitine translocase that transfers fatty acylcarnitines into mitochondria in exchange for free carnitine.

This publication has 23 references indexed in Scilit: