25/01/2026
As the first generations of people diagnosed with PKU and treated with a lifelong low-phenylalanine (low-Phe) diet grow older, an important reality is emerging: we still don’t fully understand how PKU interacts with ageing.
Conditions commonly associated with ageing, such as Parkinson’s disease or dementia, have not yet been sufficiently studied in the context of PKU. At the same time, many older adults with PKU face new challenges as independence declines, raising concerns about how to safely maintain their nutritional therapy while relying on caregivers or institutions.
There is also evidence suggesting higher mortality rates among late-diagnosed PKU patients, now often in their 60s and 70s. Furthermore, individuals with classic PKU who have had inadequate dietary treatment are at increased risk of bone and joint disorders, adding to the long-term burden of the condition. ⚠️
All of this underscores a clear and urgent message:
👉 Adult and ageing PKU patients need more research, better data, and a higher standard of lifelong care.
These unmet needs are clearly described in “CAPTURING THE FULL PICTURE – A Joint Policy Paper on Unmet Medical Need in Phenylketonuria (PKU)”, published by E.S.PKU in 2023. 📄
📢 We strongly encourage clinicians, policymakers, researchers, and patient advocates to read this important paper and help push the conversation forward because PKU does not end in childhood.
🔗 Read the policy paper here:
https://www.espku.org/2024/11/27/unmet-medical-need-in-phenylketonuria-pku/
Let’s work together to ensure lifelong, age-appropriate care for everyone living with PKU.
