Nursing care in Phenylketonuria: a scoping review

Introduction: Phenylketonuria is a rare inherited metabolic disorder which, in the absence of early diagnosis and treatment, can lead to irreversible neurological damage.​ Objective: To map the available evidence on the physical and psychological impacts of phenylketonuria and its treatment, highlighting the contribution of nursing in the follow‑up of these individuals and their families.​ Methodology: A scoping review was conducted according to the Joanna Briggs Institute methodological guidance for scoping reviews and reported in line with the PRISMA-ScR extension, using the PCC strategy to structure the research question and identifying studies in the CINAHL, MEDLINE (via PubMed), and EBSCOhost platform, published between 2011 and 2024. Results: Adherence to the restrictive diet emerged as the main challenge, affecting metabolic control, psychological well-being, and quality of life. The included studies consistently highlight the involvement of nurses in health literacy promotion, therapeutic education, emotional support, and care coordination, although nursing-specific interventions are often poorly described and underreported. Conclusion: Nursing practice in rare metabolic diseases such as phenylketonuria should evolve toward more specialized and person-centered interventions that are clinically effective and tailored to the complex biopsychosocial needs of individuals with PKU and their families. However, the current evidence base provides limited detail on specific nursing interventions, underscoring the need for further research that clearly defines, implements, and evaluates nursing roles in this field.