Psychosocial Impact and Residual Resource Needs Following Institution of Enzyme Substitution Therapy for PKU

Background: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders and first to be included on newborn screening. Even treated, it can impact quality life (QoL) due strict dietary management potential for neuropsychiatric symptoms including anxiety, depression, impaired executive functioning attention. This study aims learn about newest treatment PKU – pegvaliase, an enzyme substitution therapy has QoL assess residual support resource needs patients taking it. In clinical trials, pegvaliase was shown improve certain symptoms. No research currently published overall or needs. Methods: Adults who have were surveyed, adults are not pegvaliase. Survey questions assessed current management, QoL, PKU-related, utilized resources supports remaining Standardized assessing depression cognition also included. Responses compared by whether respondent their phe levels above below a set threshold. Results: Significant differences found in satisfaction with PKU, general life, when comparing level. When status, significant difference only management. Residual predominantly involved social, financial, adult-specific needs, although many respondents reported utilizing these domains. Conclusions: The knowledge gained this relevant public health genetic counseling adding existing literature related specifically use levels. Phe level seemed robust degree likely its ability lower PKU-related worries seem similar regardless should focus future care. Ensuring that adult aware available important filling study.