Screening for Phenylketonuria

Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his approach for early diagnosis and the fact that a low-phenylalanine diet prevented the neurological sequelae of untreated PKU, Robert Guthrie became the first and utmost advocate of newborn screening for PKU. Following the first PKU newborn screening pro gram in Buffalo, N.Y., USA, in the 1960s, additional newborn screening programs were initiated around the world in the 1960s and 1970s. Newborn screening has since been recognized as an important public health measure, and most countries have ongoing newborn screening programs for PKU and other inborn errors of metabolism. Since the first programs, it has been recognized that early diagnosis of PKU and subsequent initiation of a low phenylalanine diet results in normal neurological outcomes – in contrast to the severe mental retardation in untreated PKU. Today’s newborn Olaf Bodamer, MD Institute of Inherited Metabolic Diseases Paracelsus Medical University Salzburg Strubnergasse 39, AT–5020 Salzburg (Austria) Tel. +43 662 4482 2600, Fax +43 662 4482 2604, E-Mail olaf.bodamer @ pmu.ac.at © 2010 Nestec Ltd., Vevey/S. Karger AG, Basel 0517–8606/10/0682–0053$26.00/0 Accessible online at: www.karger.com/ane D ow nl oa de d by : 54 .7 0. 40 .1 1 11 /1 9/ 20 17 1 0: 03 :2 9 A M