Medical Progress Newborn Screening for Metabolic Disorders

ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f newborn screening for PKU 3 and, subsequently, to the much more inclusive newborn screening for metabolic disorders of oday. In this review, we endeavor to describe current newborn screening, the interrelationship between the public and private ectors, the range of metabolic disorders that can be covered by screening, with emphasis on recent expansion using tandem mass pectrometry (MS/MS), the reported outcomes of identified infants, and a number of issues that confront newborn screening.