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 ...

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.

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 ...

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 ...

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, ...

Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine (Phe) diet is used to treat PKU. The diet is very restrictive, ...

Researchers in Germany recently evaluated executive functions in 36 patients who were diagnosed with PKU during childhood. Significant negative correlations were observed between elevated childhood ...

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 ...