The UK NSC recommendation on Phenylketonuria screening in newborns (currently under review)
This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.
The review process began in Dec 2015 and is estimated to be completed by Feb 2016.
||Systematic population screening programme recommended
Evidence to support continuation or cessation of existing screening programmes should be reviewed regularly. The process for this is currently being revised, which is why this topic does not currently have a review date. The new process will be published in due course. Each programme has an active portfolio of research, evidence and audit to support continual improvement. Find out more about phenylketonuria screening, as part of the newborn blood spot screening programme in England.
Find general information about population health screening.
More about PKU
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 NHS Choices
Screening in the UK
Compare how screening is offered across the UK.
• 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 recommendation is next reviewed.
If you think your organisation should be added, please
More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
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