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Abstract

Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of phenylalanine hydroxylase leading to decreased conversion of phenylalanine (Phe) to tyrosine (Tyr). Pegvaliase™ (Palynziq™, BioMarin Pharmaceutical Inc., Novato, CA, USA), an injectable enzyme replacement therapy decreases plasma Phe by converting Phe intro trans-cinnamic acid and ammonia. This study aims to evaluate the changes in the dietary composition of participants with PKU on pegvaliase.

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