Metabolic screening

Mandated, universal metabolic screening has been an effective tool for the early identification of infants with metabolic disorders, particularly those amenable to improved outcome with dietary management or medication. Although the availability of diagnosis long before symptoms occur may be useful to preclude expensive diagnostic evaluation when the subtle early symptoms begin and may allow for genetic counseling and testing in affected families, many concerns have been raised regarding the psychologic impact of presymptomatic diagnosis of diseases that are either fatal or for which no effective treatment is available. Before mass screening is initiated, careful pilot studies need to be done to evaluate sensitivity and specificity as well as the impact of early identification on infant outcome.