Phenylketonuria from the perspectives of patients in Türkiye.

Background: The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and implementations on PKU.

Methods: The study included patients diagnosed with PKU and/or their parents. They were informed about the study via phone calls and their verbal consents were obtained.