Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey

This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0–1 year age group (14/22 sought 120–240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.Fil: Poloni, Soraia. Hospital de Clínicas de Porto Alegre; BrasilFil: Dos Santos, Bruna Bento. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; BrasilFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Pereyra, Marcela. Gobierno de la Provincia de Mendoza. Hospital Pediátrico Humberto Notti; ArgentinaFil: Saborío Rocafort, Manuel. Universidad de Costa Rica; Costa RicaFil: Salazar, María Florencia. Universidad de Chile; ChileFil: Leal-Witt, María Jesús. Universidad de Chile; ChileFil: Castro, Gabriela. Universidad de Chile; ChileFil: Peñaloza, Felipe. Universidad de Chile; ChileFil: Wong, Sunling Palma. Hospital Nacional de Niños; Costa RicaFil: Badilla Porras, Ramsés. Hospital Nacional de Niños; Costa RicaFil: Ortiz Paranza, Lourdes. Ministerio de Salud Pública y Bienestar Social; ParaguayFil: Sanabria, Marta Cristina. Hospital de Clínicas; ParaguayFil: Vela Amieva, Marcela. Instituto Nacional de Pediatría; MéxicoFil: Morales, Marco. No especifíca;Fil: Caro Naranjo, Amanda Rocío. Pontificia Universidad Javeriana; ColombiaFil: Mahfoud, Antonieta. Pontificia Universidad Javeriana; ColombiaFil: Colmenares, Ana Rosa. Hospital Clinica Caracas-Materno Infantil de Caricuao; VenezuelaFil: Lemes, Aida. Instituto de Seguridad Social; UruguayFil: Sotillo Lindo, José Fernando. Hospital de especialidades Pediátricas “Omar Torrijos Herrera"; PanamáFil: Perez, Ceila. Robert Reid Cabral Children’s Hospital; República DominicanaFil: Martínez Rey, Laritza. Centro Nacional de Genética Médica; CubaFil: Zayas Torriente, Georgina María. Centro de Nutrición e Higiene de los Alimentos del Instituto Nacional de Higiene, Epidemiología y Microbiología; CubaFil: Farret Refosco, Lilia. Hospital de Clínicas de Porto Alegre; BrasilFil: Doederlein Schwartz, Ida Vanessa. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; BrasilFil: Cornejo, Veronica. Universidad de Chile; Chil