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 ...

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 ...

You are able to gift 5 more articles this month. Anyone can access the link you share with no account required. Learn more. A blood test developed in the 1960s to screen for PKU, or phenylketonuria, ...

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 ...

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.

PKU is a rare congenital metabolic disorder that results in the accumulation of the amino acid phenylalanine in body fluids and the nervous system. The abnormal accumulation of amino acid in a child’s ...