PKU
The UK NSC policy on Phenylketonuria screening in newborns
More Information
Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts the phenylalanine in the body into tyrosine. Where there is an enzyme block the phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties.
» Read more about phenylketonuria on the Contact a Family website
Policy Position
Screening for phenylketonuria (PKU) is offered as part of the screening programme for all newborn babies. Screening for other rare inherited amino acid disorders should not be offered.
This policy was reviewed in Jul 2006 but no significant changes were made. It is due to be considered again in 2009/10, or earlier if significant new evidence emerges.
Screening in the UK
Compare how screening is offered across the UK.
Evidence Supporting the Policy
Health Technology Assessment 1997 vol 1 no.11: Neonatal screening for inborn errors of metabolism: a systematic review
Health Technology Assessment 1997 vol 1 no. 7 : Neonatal screening for inborn errors of metabolism: cost, yield and outcome
Child Health Sub Group Report December 2003
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Institute of Child Health
National Society for Phenylketonuria
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
