Only 25–50% PKU patients responds to sapropterin, a synthetic formulation treatment, since it requires a residual PAH enzyme activity to be effective [18,22,23,37,38]. Additionally, enzyme replacement therapy, which has been established for several of the lysosomal storage disorders, is recently...
Like enzyme replacement therapy, enzyme substitution therapy is expensive: BioMarin estimates $192,000 annually for Palynziq. But the cost may be worth the ability to return to eating normal foods. Long-term effects of the formula on the oldest patients, who've been on it for more than 50...