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Life is complicated when you don’t have the tools you need


We’re calling for consistent provision of adult metabolic specialists, dieticians and psychological support for every adult with PKU in Europe.

PKU can have a significant impact on a person’s quality of life, but because the condition is rare and not widely known about, it is not currently being prioritised by European health authorities1.

We have now reached a new era in PKU, where the first adults diagnosed at birth through newborn screening face managing their condition throughout adulthood. This brings new challenges, and we urgently need to find ways to evolve care and support the needs of everyone living with PKU.

Building on research and recommendations delivered by the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU) in 2015 and the most recent European clinical guidelines in 2017, the Live Unlimited campaign is calling for specific aspects of care for adults with PKU to be improved to adequately reflect the lifelong nature of the condition.

Greater consistency of care for adults with PKU across Europe

The European guidelines set-out clear standards for the management of PKU. Where no national guidelines exist, these should be implemented fully to ensure that people with PKU have access to the support and care they need2.

Regular access to a multidisciplinary team of healthcare professionals

Despite the neurological effects of PKU and extremely restrictive diet recommended for controlling Phe, studies have suggested that only 12% of patients in Europe have access to a multi-disciplinary team consisting of specialist physicians, nutritionists, specialty nurses, psychologists and clinical biochemists3.

Better support for people transitioning from paediatric to adult care

While children with PKU generally see a specialist every month, adults are typically only seen once a year or less2,3.

After the age of 18, many people with PKU stop visiting a specialist at all, often due to a perceived lack of support from clinicians and apathy towards dietary adherence4.

We believe that PKU can be better managed by ensuring regular follow-up throughout adulthood, beginning with an individual care plan while transitioning from paediatric to adult care5.

Girls desk at desk reading


  1. PKU: Closing the Gaps in Care an ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies.
  2. 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. Published 2017 Oct 12. doi:10.1186/s13023-017-0685-2.
  3. Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115
  4. Thomas J et Al. Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic Journal of Inborn Errors of Metabolism & Screening 2017, Volume 5: 1–9, 2017
  5. Cazzorla C et Al. Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Molecular Genetics and Metabolism Reports 16 (2018) 39–45