Tratamento dietético da fenilcetonúria no brasil: evolução das recomendações dos protocolos clínicos e diretrizes terapêuticas e evidências científicas (2019–2025)

Abstract

To analyze the evolution of recommendations related to the dietary treatment of phenylketonuria in the Brazilian Clinical Protocols and Therapeutic Guidelines from 2010 and 2019, comparing them with scientific evidence published between 2019 and 2025. Method: This is a qualitative, exploratory-descriptive study developed through comparative documentary analysis and an integrative literature review. The Clinical Protocols and Therapeutic Guidelines published under Ordinance SAS/MS No. 712/2010 and Joint Ordinance No. 12/2019 were analyzed. The bibliographic search was conducted in PubMed, ScienceDirect, and SciELO databases. Results: A total of 6088 records were identified, of which 10 studies composed the final sample. The 2019 Clinical Protocol and Therapeutic Guideline broadened the perspective of care by reinforcing lifelong follow-up, metabolic monitoring, controlled breastfeeding, maternal care during pregnancy, and the possibility of adjuvant therapies, such as sapropterin. Recent evidence has pointed to advances related to dietary support applications, volumetric absorptive microsampling, glycomacropeptide, and pegvaliase, while also revealing challenges related to adherence, transition to adulthood, individual variability, and access to therapeutic resources. Conclusion: Dietary treatment remains the central axis of phenylketonuria therapy, requiring continuous, individualized nutritional follow-up integrated with multidisciplinary care.