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Just 12% of adults with PKU have access to the multidisciplinary tools and support they need3 – we’re campaigning to change this.

Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person’s ability to break down protein and that can cause cumulative toxic effects on the brain1.

Around 1 in 10,000 babies in Europe are born with the genetic condition, which is screened for during the new born heel prick test.

But PKU isn’t just a childhood disease. Adults with the condition have to follow treatment and a diet containing almost no protein to minimize symptoms and prevent damage to the brain1,2. You can find out more about PKU here.

Living without the necessary tools is a daily reality for adults with PKU across Europe

Image of patient and doctor in office

Care for adults with PKU varies considerably across Europe in terms of diagnosis, treatment, and lifelong management3.

Despite the neurological effects of the condition and difficulties following a low-protein diet, just 12% of adults with PKU have access to the multidisciplinary tools and support they need3. And some adults have to go to children’s wards to receive any specialist care.

Managing PKU throughout adulthood can be very difficult and is made more challenging without the right support services 4    

Report that adherence to a strict diet required ‘significant effort’

Report relationship difficulties with friends, family and partners

Experience social exclusion

If you’re living with PKU you can find more patient support services here

This needs to change

The Live Unlimited campaign aims to raise awareness of the lifelong condition, PKU, and to support everyone living with the condition to ask policymakers to provide better access to specialist and frequent adult care.

We’re working with patient groups across Europe to call for consistent provision of metabolic specialists, dieticians and psychological support for every adult with PKU in Europe – as set out by the 2017 European Guidelines for PKU1.

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  1. Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. October 2017.
  2. Bilder DA et Al. Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. Dev Neuropsychol. 2016 May-Jun;41(4):245-260.
  3. Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115
  4. Ford, S. et Al. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Report. 2018
  5. BioMarin commissioned polling company Alligator to conduct a six-question online survey amongst nationally representative samples from the UK, France, Germany, Italy, Spain, Sweden, The Netherlands and Turkey, with 4,151 total respondents in total.* The survey was completed between 1st and 6th June 2019. Respondents were asked to rate six life milestones on a 5 point scale from ‘Not at all’ stressful to ‘extremely’ stressful. Total number of respondents with an underlying health condition: 1,932. A total of 112 PKU patients were collected separately in partnership with patient groups in Italy, Sweden, Spain, Turkey, and The Netherlands.