Infant Metabolic Screen

Every state requires an infant metabolic screen often called a “PKU test”. This amounts to a heel stick drawn after birth to look for rare diseases. The test is done in the hospital 24 hours after the child’s first feeding. Florida’s screen was recently expanded from 5 diseases to 5 categories of diseases.

It screens for PKU, cystic fibrosis, sickle cell disease, hypothyroidism and many others.
Why these diseases? These diseases are screened for because early diagnosis can significantly impact an individual’s lifetime health.

PKU (phenylketonuria) is probably the best example. Have you ever noticed the red letters on a Diet Coke can that states, “this product contains phenylalanine”?. Phenylalanine is an amino acid found in high protein foods like meats, milk and nuts. If people with PKU ingest phenylalanine they will become progressively mentally retarded. If their diet is free of phenylalanine they will have normal intelligence.

The state normally sends the results to your pediatrician about a month later. In general, the state reports abnormal results quickly (usually before 2 weeks of life).

Written March 2010 by
Dr. Gordon, Windermere Pediatrician