Phenylalanine Hydroxylase Gene Transference

Phenylalanine hydroxylase (PAH) is an enzyme encoded by the PAH gene. Deficiency or mutations in the PAH gene result in phenylketonuria (PKU), a metabolic disorder characterized by elevated levels of phenylalanine in blood and tissues. Gene transfer strategies aim to introduce functional copies of the human PAH gene into cells lacking normal activity, offering a potential cure for PKU at its genetic root rather than managing symptoms through dietary restriction alone. Preclinical studies demonstrate feasibility using both plasmid-based and viral vector-mediated delivery systems in cell culture models and animal hepatocytes. Ongoing research aims at translating these findings toward clinical application.

Other names

PAH gene transferPhenylalanine hydroxylase gene therapyPAH gene therapyGene therapy for PKU

Introduction of functional PAH gene to restore phenylalanine hydroxylase activity