Phenylketonuria(PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disorder affecting how the body processes protein. In people with PKU, the body is unable to break down an amino acid called phenylalanine (Phe), which then builds up in the blood and brain. Without treatment, this can lead to serious health problems—including intellectual disability and neurological issues.
In Northern Ireland, PKU is usually identified through the newborn blood spot test (heel prick test) within the first week of life. Early diagnosis and dietary management can lead to healthy outcomes, enabling those with PKU to live well and thrive.
What Causes PKU?
PKU is caused by a genetic mutation affecting the enzyme phenylalanine hydroxylase (PAH). This enzyme normally breaks down phenylalanine, which is found in protein-containing foods. People with PKU inherit a faulty PAH gene from both parents, making it an autosomal recessive condition.
Symptoms of Untreated PKU
If left untreated, PKU can cause:
- Developmental delay
- Learning disabilities
- Behavioural issues
- Seizures
- Eczema
- A musty smell on the breath, skin, or urine
However, with early diagnosis and lifelong management, these complications can largely be avoided.
Living with PKU
The main treatment for PKU is a strict low-protein diet that limits phenylalanine intake. This often includes:
- Special low-protein foods
- Prescribed protein substitutes
- Regular blood tests to monitor Phe levels
- Ongoing support from a metabolic care team
There are also emerging pharmaceutical treatments that may help some individuals with PKU to tolerate higher levels of phenylalanine, depending on the severity of their condition.
Support and Resources
NIRDP recognises the challenges of living with PKU and the importance of access to treatment, emotional support, and information.
We encourage anyone affected by PKU—individuals, families, and carers—to connect with The National Society for Phenylketonuria (NSPKU), the UK’s national charity supporting people with PKU. They offer:
- Resources for newly diagnosed families
- Guidance on diet and treatment
- Information on research and clinical trials
- Advocacy on policy and access to care
We Want to Hear from You
Do you live with PKU or care for someone who does? Your voice matters. Please contact us at info@nirdp.org.uk if you would like to:
- Share your story
- Connect with others in Northern Ireland
- Help shape services for the PKU community
