Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
| Autor: | Ana Chiesa, Ana Rosa Colmenares, Aida Lemes, Ramsés Badilla Porras, Ceila Perez, Georgina María Zayas Torriente, José Fernando Sotillo-Lindo, Lourdes Ortiz Paranza, Antonieta Mahfoud, Manuel Saborío-Rocafort, Marcela Pereyra, Marco Morales, Bruna Bento dos Santos, Lilia Farret Refosco, María Jesús Leal-Witt, Sunling Palma Wong, Gabriela Castro, Soraia Poloni, Felipe Peñaloza, Verónica Cornejo, Norma Spécola, Laritza Martínez Rey, Marta Sanabria, Amanda Rocío Caro Naranjo, Ida Vanessa Doederlein Schwartz, Marcela Vela Amieva, María Florencia Salazar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adult congenital hereditary and neonatal diseases and abnormalities Latin Americans Health Personnel Phenylalanine Purchasing power phenylketonuria 030105 genetics & heredity Article 03 medical and health sciences 0302 clinical medicine Neonatal Screening Food Labeling Environmental health Phenylketonurias Analysis software Medicine Humans TX341-641 Child Final version Food Formulated Newborn screening Nutrition and Dietetics business.industry Nutrition. Foods and food supply newborn screening Dietary management Infant Newborn Disease Management Infant nutritional and metabolic diseases low-protein diet Health Surveys Diet Latin America PKU Multicenter survey Pilot test business 030217 neurology & neurosurgery Food Science |
| Zdroj: | Nutrients Volume 13 Issue 8 Nutrients, Vol 13, Iss 2566, p 2566 (2021) |
| ISSN: | 2072-6643 |
| DOI: | 10.3390/nu13082566 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|