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.
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 services4.
If you’re living with PKU, you can find more patient support services here.
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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This campaign has been funded and developed by BioMarin in collaboration with the following patient groups and their memberships: AMMeC (Italy), Cometa A.S.M.M.E (Padua, Italy), Les Feux Follets (France), Svenska PKU-föreningen (Sweden), PKU Aile Derneği (Turkey), FEEMH (Spain), PKUAI (Ireland), APOFEN (Portugal) and the Hungarian Society for PKU (Hungary).