Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

Abstract

. Taken as a group, genetic disorders affect a significant proportion of the population. Historically thought of as pediatric disorders, inborn errors of metabolism (IEM) are becoming increasingly relevant to the adult clinical provider; given the improvements in screening, diagnosis and management, an increasing number of children with IEM’s are able to transition adulthood. Currently available data suggests that adult-medicine clinical providers are ill-prepared to appropriately care for this population. Although practical management and transition guidelines exist for a minority of disorders, there is a significant lack of guidance for the great majority of conditions. Based on our review of the relevant literature, we set out to provide practical recommendations to assist in the transition from adolescence to adulthood, with an emphasis on patients with an inborn error of metabolism.