The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

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; ...

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 ...

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?

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 ...