{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:53:20Z","timestamp":1790034800577,"version":"4.0.1"},"reference-count":28,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>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 &lt; 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.<\/jats:p>","DOI":"10.3390\/ijerph23060807","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T10:19:53Z","timestamp":1781691593000},"page":"807","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4506-6487","authenticated-orcid":false,"given":"Soraia","family":"Poloni","sequence":"first","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8949-8902","authenticated-orcid":false,"given":"Laura de Azevedo","family":"Pesce","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviane de C\u00e1ssia","family":"Kanufre","sequence":"additional","affiliation":[{"name":"Hospital das Cl\u00ednicas da UFMG\/Ebserh, N\u00facleo de A\u00e7\u00f5es e Pesquisa em Apoio Diagn\u00f3stico, NUPAD-UFMG, Belo Horizonte 30130-100, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia Ramos","family":"Farret","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila","family":"Pugliese","sequence":"additional","affiliation":[{"name":"Instituto da Crian\u00e7a e do Adolescente do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5756-9615","authenticated-orcid":false,"given":"Jos\u00e9 Ara\u00fajo de Oliveira","family":"Silva","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica e Erros Inatos do Metabolismo IGEIM\/CREIM\/UNIFESP, S\u00e3o Paulo 04020-041, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1865-1333","authenticated-orcid":false,"given":"Monique","family":"Poubel","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Raras e Servi\u00e7o de Refer\u00eancia em Triagem Neonatal do Distrito Federal HAB\/SES-DF, Hospital de Apoio de Bras\u00edlia, Bras\u00edlia 70684-831, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Efig\u00eania de Queiroz","family":"Leite","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Refer\u00eancia em Triagem Neonatal APAE, Salvador 41830-141, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata Bernardes de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica e Erros Inatos do Metabolismo IGEIM\/CREIM\/UNIFESP, S\u00e3o Paulo 04020-041, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ymgme.2012.07.005","article-title":"Nutritional Treatment for Inborn Errors of Metabolism: Indications, Regulations, and Availability of Medical Foods and Dietary Supplements Using Phenylketonuria as an Example","volume":"107","author":"Camp","year":"2012","journal-title":"Mol. 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