The PKU.cat Consortium continues to lead efforts to improve the quality of life and expand knowledge about phenylketonuria (PKU), a rare hereditary metabolic disorder affecting the metabolism of the amino acid phenylalanine. Thanks to multidisciplinary collaboration and the use of cutting-edge technologies, three significant studies have been published, and two more are currently under review.
Key Studies
- Personalized enteral nutrition
A recent article published in J Clin Med describes the first documented case of personalized enteral nutrition for an adult with PKU and severe dysphagia. This experience highlights the challenges and solutions associated with combining protein substitutes with standard enteral feeding formulas, providing crucial insights for developing specific protocols for these patients. - PKU-associated brain alterations
A study published in J Neurodev Disord reveals that PKU can lead to significant reductions in the volume of subcortical brain regions, such as the pallidum and amygdala, as well as in cerebral white matter. These findings underscore the importance of strict metabolic control to prevent neurological alterations in patients.
Ongoing Research
- Relationship between brain diffusion alterations and cognitive performance
Currently under review at J Inherited Metabolic Diseases, this study explores how alterations in brain diffusion relate to cognitive performance in early-treated adults with PKU, highlighting the influence of phenylalanine levels. - Metabolic profile in blood and urine of PKU patients
Another study under review investigates the metabolomic footprint in the blood and urine of adults and children with PKU. This systematic review offers a comprehensive overview of the biomarkers associated with the disease and its treatment.
Looking Ahead
The research led by the PKU.cat Consortium not only provides a deeper understanding of the consequences of phenylketonuria but also contributes to the development of new therapeutic strategies and treatment protocols. By combining clinical and technological advances, the Consortium continues to be a reference point in tackling this rare disease, paving the way for improved treatment options and a better quality of life for patients and their families.
You can find more information about the published studies in the Research section of our website.