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.