Recent advances in newborn screening for neurometabolic disorders

Newborn screening for neurometabolic disorders offers a unique and promising opportunity to practice preventive medicine in children with diverse inborn errors of metabolism. The benefits of the early identification and presymptomatic treatment of these disorders are now recognized.

The rapid pace of developments in the field of expanded newborn screening has been made possible by technological advances in the ability to detect multiple compounds diagnostic of diverse inborn errors of metabolism in neonatal dried blood specimens. Launched by the success of newborn screening for phenylketonuria, experts in this area are optimistic that further public health benefits will follow the same pathway. This review highlights the population model and public health issues inherent in advances in newborn screening for selected neurometabolic disorders. Current and future diagnostic and therapeutic, as well as social and ethical, dilemmas are discussed.

Newborn screening represents one of the major child health advances of this past century. As developments in the field of expanded newborn screening for neurometabolic disease progress forward, the long-term success of this important project will pose future challenges and opportunities.