Inspired by his mentally disabled son, Robert Guthrie, MD, PhD, became a tireless advocate for individuals with intellectual handicaps. He devoted much of his career to researching the prevention of ...

For a child to get the disorder, both the mother and father must pass down a mutated PKU gene. Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, ...

Babies get tested for many things right after they are born. The heel prick includes a test for phenylketonuria (PKU), a rare birth defect that causes a certain amino acid to build up in the body. Dr.

To the Editor: Because it seems unfortunate that mis-understandings in some places have delayed the inauguration of screening programs for phenylketonuria in newborn infants I am sending this or a ...

Phenylketonuria or PKU is a rare, genetic, recessive metabolic disorder affecting about 50.000 people worldwide. PKU is characterized by the deficiency or the malfunctioning of a liver enzyme needed ...

My father makes every baby cry. Growing up, that’s what I told my friends when they asked what my scientist-doctor-dad had invented. They knew it had something to do with newborn babies, something to ...