Phenylketonuria (PKU) is a disorder where an amino acid called ... other tissues can result in damage to the brain. A newborn baby affected by phenylketonuria will not exhibit any symptoms at ...

A new study suggests early detection improves outcomes, but metabolic episodes in the first days of life still prove ...

In 1957, Guthrie met Robert Warner, a specialist who diagnosed individuals with mental disabilities. Warner told Guthrie about phenylketonuria (PKU), now known to affect roughly 1 in 10,000 children.