PKU and Phe Levels: Variability vs Absolute Levels

Shawn Christ, PhD

Shawn Christ, PhD, of the department of psychological sciences at the University of Missouri discusses the latest data suggesting that variability in Phe levels can impact the neuroanatomy of the PKU patient as well as their behavior. 
This interview was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.


What we and others have found is higher phenylalanine levels are associated are associated with higher risk for the white matter abnormalities (because they don't necessarily occur in everybody). Also, higher phenylalanine levels are associated with increased risk for cognitive problems, and anxiety and depression problems we talked about.
With that said, the newer research that us and others are looking at is it's not just the how high Phe levels are but also variability. So extreme variability in the Phe levels may also be related to poor outcome.
And we can look past the PKU literature to see that similar trends in diabetes looking at hyper- or hypo- glycemic events and how that variability actually impacts outcome as well. So PKU is not alone in the idea that variability can be problematic.
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