Phenylketonuria

The Guthrie Test for Early Diagnosis of Phenylketonuria

The Guthrie Test for Early Diagnosis of Phenylketonuria

The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant's heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria

Robert Guthrie (1916–1995)

Robert Guthrie (1916–1995)

Robert Guthrie developed a method to test infants for phenylketonuria or PKU in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnose it. Guthrie’s test enabled newborns to be quickly and cheaply

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