Abstract

This review explores the challenges in adult phenylketonuria (PKU) management, focusing on the transition to adult care, long-term follow-up, and treatment adherence.

Relevant literature was identified through a PubMed search using keywords such as “phenylketonuria,” “transition process,” “adults,” and “clinical management”. Studies were screened based on relevance, emphasizing neurological and metabolic complications, adherence determinants, and clinical outcomes. Additional insights were drawn from clinical guidelines and consensus statements.

Transitioning from pediatric to adult care is critical but inconsistently implemented, with gaps in specialized services. Multidisciplinary teams, including metabolic specialists and dietitians, are essential for addressing the medical and psychosocial needs of adults with PKU. Plasma phenylalanine levels have limited utility in predicting outcomes, as complications such as obesity and insulin resistance often emerge despite early treatment. Novel therapies, such as pegvaliase, improve dietary flexibility but pose challenges with adherence and accessibility. Digital tools and telemedicine hold promise for enhancing patient engagement.

Structured transition processes, interdisciplinary collaboration, and personalized care strategies are essential for effective adult PKU management. Future priorities include refining assessment protocols, addressing psychosocial barriers, and ensuring access to advanced therapies. Comprehensive, patient-centered care remains crucial to improving outcomes and quality of life.