Are There Therapeutic Interventions for PAH Deficiency?
The primary therapeutic intervention for PAH deficiency is dietary management. However, recent advances include the use of pharmacological agents such as sapropterin dihydrochloride, a synthetic form of the PAH cofactor tetrahydrobiopterin, which can enhance residual enzyme activity in certain individuals with PKU. Gene therapy is also an emerging field that holds promise for correcting the underlying genetic defect in PAH deficiency.
