Peer-Reviewed Publication
Orphanet J Rare Dis2026;21(1):18.January 19, 2026Journal Article
Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial.
Sophia M Khan1, Madison L Fennell1, Mazyar Fallah1, Heather Jordan1, Zachary Kroezen2, Philip Britz-McKibbin2, Philip J Millar1,3, Robyn R Heister4, Marie-Claude Vohl5, Justine R Keathley6
1College of Biological Sciences, Department of Human Health Sciences, University of Guelph, Guelph, ON, Canada.
2Department of Chemistry and Chemical Biology, McMaster University, Hamilton, ON, Canada.
3Human Cardiovascular Physiology Laboratory, Department of Human Health Sciences, University of Guelph, Guelph, Canada.
4Doctronic, San Francisco, California, USA.
5Centre Nutrition, santé et société, Institut sur la nutrition et les aliments fonctionnels, Université Laval, Québec, QC, Canada.
6College of Biological Sciences, Department of Human Health Sciences, University of Guelph, Guelph, ON, Canada. jkeathle@uoguelph.ca.
Abstract
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive genetic condition caused by a PAH gene mutation that results in impaired function of the phenylalanine hydroxylase (PAH) pathway. Thus, L-phenylalanine (Phe) cannot be effectively hydroxylated into L-tyrosine (Tyr), so without treatment, Phe levels accumulate while Tyr levels remain low. While PKU is relatively well understood, there is c…
Create a free account to keep reading
Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.
Want unlimited research access? See Pro plans