Phenylketonuria (PKU) is an autosomal recessive condition. Babies with PKU are unable to break down phenylalanine, an amino acid present in many foods. Screening for PKU began in Scotland in 1965. The aim of the programme is to identify affected babies so that treatment can begin as early as possible. If started early treatment is highly effective. The incidence of PKU in Scotland is approximately 1 in 8,000 births.
The following information leaflets are available for parents and can be downloaded from the UK newborn screening Programme website:
- Phenylketonuria is suspected https://www.gov.uk/government/publications/pku-suspected-description-in-brief
- Phenylketonuria confirmed diagnosis https://www.gov.uk/government/publications/pku-confirmed-diagnosis-description-in-brief
The Inherited Metabolic Disorders National Managed Clinical Network will be able to give information and support to parents following the diagnosis of PKU.
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