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Phenylketonuria (PKU) is a disorder of amino acid metabolism with reported incidence ranging from 1 in 19,000 to 1 in 13,500 newborn infants*. It is caused by an inability to convert phenylalanine to tyrosine due to deficient activity of the enzyme, phenylalanine hydroxylase.
As a result, excessive amounts of phenylalanine and toxic metabolites accumulate, harming brain development. The symptoms can be clearly reduced with a diet low in phenylalanine, and early detection is critical in starting the treatment and ensuring normal brain development.
* Kaye CI. and the Committee on Genetics (2006) Newborn Screening Fact Sheets. Pediatrics 118 (3).
GSP Neonatal Phenylalanine - the automated enzymatic assay
The GSP Neonatal Phenylalanine (Phe) kit is intended for the quantitative determination of phenylalanine concentrations in blood specimens dried on filter paper as an aid in screening newborns for phenylketonuria by using the GSP® instrument.
Dried blood spots