History
Phenylketonuria (PKU) was one of the earliest recognized inborn errors of metabolism. In populations of European ancestry, it affects about 1 in 13,000 infants. In 1934, Følling discovered that restricting phenylalanine could improve the neurologic function of children with PKU, and within a few years it was established that a diet low in protein from infancy could prevent the mental retardation. Unfortunately, PKU was often not detected until significant brain damage had occurred. The ferric chloride test was unreliable in newborns and even by the 1950s there was no reliable, practical method for mass screening and detection of this disease before harm had occurred.
Robert Guthrie (1916–1995), a bacteriologist and physician at the Women and Children's Hospital of Buffalo, New York, reported in 1963 the initial version of this assay. Within a decade, newborn screening programs using this test were established in most of the United States and many other countries.
Read more about this topic: Guthrie Test
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