Jen's PKU Work
Congratulations to one of our former group members, Jen Wild, on her paper outlining potential urinary biomarkers for the dietary assessment of phenylketonuria (PKU). Considering the management of PKU requires lifelong restriction of phenylalanine (Phe) intake, typically specialized medical foods are used to prevent neurocognitive impairment in affected patients, and thus a need for a non-invasive assessment of dietary adherence is important. Plasma metabolomic studies demonstrated that non-adherent PKU patients had lower circulating concentrations of Tyr, arginine, 2-aminobutyric acid, and propionylcarnitine that were inversely correlated to Phe. Nontargeted metabolite profiling also revealed urinary biomarkers associated with poor dietary adherence among PKU patients, including elevated concentrations of catabolites indicative of Phe intoxication (e.g., phenylpyruvic acid, phenylacetylglutamine, hydroxyphenylacetic acid). Take a look at her manuscript below: