Neonatal screening for inborn errors of metabolism: update

Abstract

Newborn screening for inborn errors of metabolism is an established practice that has shown its value in preventing the morbidity, mortality, and mental retardation that ravage the child suffering from an inherited disorder of intermediary metabolism. The American Academy of Pediatrics has taken a strong stand supporting newborn screening for PKU and hypothyroidism for all newborns and has repeatedly stressed the need for such screening to be part of an integrated program that incorporates screening, diagnosis, management, and support. As we enter the 21st century, the challenges of maintaining excellence in existing programs, developing new screening tests, and assuring optimal follow-up and management must be met for all children.