BioMarin Pharmaceutical is continuing to slim down its pipeline, this time ending work on a preclinical phenylketonuria (PKU) drug once touted as a potential successor to its approved med Palynziq.

It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...

Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...

QUESTION: A friend of mine has a child who has a metabolic disorder that wasn’t diagnosed with routine newborn screening even though screening for the disorder does exist. How could that happen?

Suggested Citation: "1 Introduction." National Academies of Sciences, Engineering, and Medicine. 2025. Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence.

A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...

Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they ...