Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial

BackgroundPhenylketonuria (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 currently sparse literature regarding the putative …