A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil

Aim: To evaluate the status of the nutritional management of diet-treated IEM in Brazil from the perspectives of healthcare professionals, patients, and families. Methods: Data were collected through two nationwide digital questionnaires administered to healthcare professionals involved in dietary management (n = 37) and to patients and caregivers (n = 278), addressing professional training, workload, access to resources, treatment adherence, and socioeconomic factors. Results: Healthcare professionals from 20 out of the 26 Brazilian states participated, most of them female (81%) and dietitians (81%). Although more than half had over 10 years of experience, 59% considered their training insufficient to work with IEM. Only 19% reported exclusive dedication to the field, and 54% were the sole professional responsible for dietary prescriptions at their center. Weekly workload dedicated to IEM varied widely. Among the patients and families, phenylketonuria (60.4%) and glycogen storage disease (25.9%) were the most frequent conditions. Higher educational level and longer time since diagnosis were associated with a better understanding of dietary management (p < 0.05). Among patients on protein-restricted diets, most reported regular use of protein substitutes, although 92% reported poor palatability and 36% reported supply problems. Access to special low-protein foods was limited, and over half of the families reported some level of food insecurity. Conclusions: Significant systemic, logistical, and socioeconomic barriers to optimal dietary management of IEM persist in Brazil, highlighting the need for strengthened public policies, professional training, and equitable access to dietary resources.