CONNECTING SCIENCE AND PEOPLE
PKU.cat: A consortium to transform the present and future of phenylketonuria
A pioneering project that combines neurology, cardiology, metabolism, and microbiota to tackle PKU.
THREE APPROACHES, ONE GOAL
The faces of PKU
Researchers, healthcare professionals, and patients united to advance knowledge and improve quality of life.
Research
We explore the effects of PKU from the brain to the microbiota and mitochondrial oxidative stress to provide innovative solutions and enhance quality of life.
Healthcare
A dedicated team of professionals providing diagnosis, treatment, and personalised support for PKU patients.
Information for patients
Discover resources, guides, and practical advice to manage PKU and improve your daily life. Resources for patients of all ages.
The La Marató de TV3 Foundation has played a crucial role in creating an advanced research environment to address phenylketonuria (PKU). A project funded in the 2019 edition, dedicated to rare diseases, has enabled the launch of an innovative initiative led by the PKU.CAT Consortium.
Thanks to this collaboration, significant progress has been made in studying cardiovascular risks, neurological alterations, and the characteristics of the gut microbiota, laying the foundation to improve patients’ quality of life and revolutionise the treatment of this hereditary disease.
Phenylketonuria: from childhood to adulthood through brain connectomics, cardiovascular changes, metabolic features, and gut microbiota
- Dr. Glòria Garrabou Tornos (IDIBAPS – Hospital Clínic)
- Dr. Aida Ormazábal Herrero (FSJD)
- Dr. Carme Junqué Plaja (UB)
- Funding: 399.990,00 €