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 ...

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 ...

(KUTV) — A Phenylketonuria (PKU) screening test is a blood test given to newborns 24–72 hours after birth. For a child to get the disorder, both the mother and father must pass down a mutated PKU gene ...

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.

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 ...

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 ...

Each year, specimen samples are collected from more than four million infants shortly after birth and sent to public health laboratories across the US. These samples are then tested for between 26 and ...

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 ...

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 ...