What is urine based newborn metabolic screening?

Urine-based newborn metabolic screening is a test performed shortly after birth to identify infants with certain genetic disorders that affect their metabolism. It involves collecting a urine sample from the newborn and analyzing it for the presence of specific metabolites that indicate the presence of a metabolic disorder.

Newborn metabolic screening is crucial for early detection of treatable metabolic disorders, as early intervention and treatment can significantly improve outcomes and prevent severe complications. By identifying affected infants early, appropriate dietary modifications, medications, or specialized treatments can be initiated promptly to manage their condition effectively.