This article is from the archives of the UB Reporter.

50 years ago

The test for PKU

Robert Guthrie’s inexpensive test to screen newborns for phenylketonuria (PKU) has spared tens of thousands of children from the effects of mental retardation. Photo: UB ARCHIVES

Published: November 10, 2011

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 early detection of phenylketonuria (PKU).

“Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine,” Guthrie wrote. “The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely related substances build up in the body.

“When the acid accumulates and becomes toxic to the brain, developmental defects and mental retardation result. A positive test result can allow for appropriate therapy to be given before the onset of neurotoxicity.”

Robert Guthrie (1916-1995) joined the staff of Roswell Park Cancer Institute in 1954 and the UB medical school faculty in 1958. He is credited with developing the inexpensive PKU screening test using a spot of blood taken from a newborn’s heel and special filter paper.

A trial PKU screening using Guthrie’s method was held at the Newark State School for the Mentally Retarded in 1960, and in 1961 he began testing specimens from two Jamestown hospitals. With federal funding to support screening on a national basis, Guthrie set up a facility near Women and Children’s Hospital of Buffalo to prepare the material needed for PKU screening. More than 400,000 infants from 29 states were tested within two years.

Today, all 50 states have legally mandated PKU screening for newborns. In order to keep the cost of the test low, Guthrie declined to patent or accept royalties for his test.

For more information about the Guthrie’s career, see “Robert Guthrie—the PKU story: Crusade Against Mental Retardation,” by Jean Holt Koch. The University Libraries hold the Robert Guthrie Phenylketonuria (PKU) papers, 1949-1991. These papers include publicity clippings pertaining to research findings, related works and interests (1958-1980); reprints of Guthrie’s publications (1949-1980); subject files covering various aspects of Guthrie’s work and daily life (1960-1991); letters sent and received by Guthrie and collaborators (1962-1991); newborn screening program tests (1970-1986); PKU collaborative labs (1962-1990); lab reports (1959-1981; and grant files (1963-1991).

The Robert Guthrie Biochemical & Molecular Genetics Laboratory, affiliated with Buffalo General Hospital and the UB School of Medicine and Biomedical Sciences, performs specialized diagnostic tests for inborn errors of metabolism.

John Edens, University Archives