Newborn Metabolic Screening: Past and Prospect

Abstract

One of the most exciting and potentially one of the most important new developments in medicine is that of newborn screening for metabolic disorders. This screening was begun on a statewide basis in Massachusetts in 1962 with the use of the Guthrie test for phenylketonuria.¹ Since then routine newborn screening for that disorder has become mandatory in 43 states, has spread widely in Europe, and most recently has begun in other areas of the world. A number of these screening programs are now testing for many metabolic disorders in addition to phenylketonuria.² The most recent important development has been the . . .