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 ...

Growing up with a rare genetic disorder, Pam Kowalczyk often felt like no one truly understood her daily struggles. Years ...

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, ...

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 ...

A MUM whose two kids have a rare disease which means eating could leave them with life-long brain damage is campaigning for ...

Claire can only eat 15g of protein a day due to PKU, a rare condition that causes a 'toxic' build-up of phenylalanine in the body.

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 ...

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?

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 ...

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 ...