Possible carnitine requirement of the newborn and the effect of genetic disease on the carnitine requirement

The essential role of carnitine in beta-oxidation of long-chain fatty acids has been identified in human nutriture, although deficiencies of this substance are rarely reported. Several important facts concerning carnitine in newborns include: the newborn has a critical need for carnitine; plasma and tissue concentrations are low; biosynthesis capability in the newborn is not developed; and dietary deficiency of carnitine affects plasma levels. While pathophysiological results of carnitine deficiency in neonates are not fully understood, some evidence indicates impaired functioning of fatty acid oxidation, thermogenesis, ketogenesis, and gluconeogenesis. A genetic defect may be responsible for inadequate carnitine biosynthesis in patients with a recognized deficiency. (cj)