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 ...

To control their phenylalanine (Phe) levels, patients with PKU are advised to follow a restricted diet. However, little is known about the long-term consequences. A new study of 15 adults with PKU ...

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; ...

The newborn screening program in Utah is now screening for a 45th condition, one expected to affect one infant every one or two years in the state, and it helps the program save lives.

Only four days after Kala McWain’s son, Braxton, was born, she learned he had a rare condition called phenylketonuria (PKU). This means Braxton cannot eat protein and relies on a special diet, ...

Mandatory testing of 45 genetic disorders is designed to lead to treatment before symptoms do damage.

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 ...