The PKU Expert Group was established by the UK Newborn Screening Programme Centre (UKNSPC) in late 2008 to review the current national standards and guidelines for clinical referral and to produce detailed screening and diagnostic protocols for phenylketonuria (PKU).
In 2005 the UKNSPC set standards for PKU screening to *ensure timeliness of the process, population uptake and timely diagnosis, assessment and treatment of babies screened positive (* lifted from the executive summary). In the 2005 guidance it was acknowledged that some laboratories use different thresholds and methods for the measurement of phenylalanine. Since 2009 all laboratories have introduced tandem mass spectrometry as the screening technology for PKU. In addition there have been developments in knowledge about biopterin disorders and a need to be consistent with standards and guidance for other screening programmes.
The PKU Expert Group consisted of representatives of the UKNSPC, British Inherited Metabolic Disease Group, UK Newborn Screening Laboratory Network and the National Metabolic Biochemistry Network.