Current medical evidence has led experts on PKU to suspect that current therapy for PKU may leave individuals with an increased risk for subtle deficits in brain function. To address this, a group of PKU experts recently (2010) published a 107-page supplement on current topics surrounding this issue to raise awareness in the PKU scientific community.
This supplement, published in the peer-reviewed journal Molecular Genetics and Metabolism, is the first collective work on the psychological and neuropathological perspective in PKU. It involved contributions from 50 PKU experts including psychologists, psychiatrists, geneticists, dieticians, neuroscientists, and biologists from countries all over the world.
We have taken and summarized key points from this expert supplement that we feel would be of interest to people who have PKU and their family members. In addition, we have included newer relevant research that has become publicly available since the supplement was published in early 2010.
The NPKUA would like to thank BioMarin Pharmaceuticals for supporting these materials with an educational grant.
Click on any of the Chapters to see what is in that section.
Table of Contents
- 1. Introduction: PKU Basics
- 2. Physical Evidence for Altered Brain Function in PKU
3. Cognitive, Psychological and Behavioural Assessment Based Evidence
for Altered Brain Function in PKU
- 4. Theories for Elevated Phe Levels Altering Brain Function in PKU
- 5. Current and Promising PKU Therapies and Assessments
- References and a Glossary of Terms