Jurai Imafuku

Generation and characterization of phenylketonuria mouse models carrying East Asian–relevant patient-derived PAH mutations

Phenylketonuria (PKU) is an inherited metabolic disorder caused by mutations in the Pah gene, resulting in impaired phenylalanine hydroxylase activity and elevated blood phenylalanine levels. Although dietary management and enzyme replacement can reduce disease burden, they require lifelong treatment and do not c...