Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey
- Autores
- Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana Elena; Specola, Norma; Pereyra, Marcela; Saborío Rocafort, Manuel; Salazar, María Florencia; Leal-Witt, María Jesús; Castro, Gabriela; Peñaloza, Felipe; Wong, Sunling Palma; Badilla Porras, Ramsés; Ortiz Paranza, Lourdes; Sanabria, Marta Cristina; Vela Amieva, Marcela; Morales, Marco; Caro Naranjo, Amanda Rocío; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo Lindo, José Fernando; Perez, Ceila; Martínez Rey, Laritza; Zayas Torriente, Georgina María; Farret Refosco, Lilia; Doederlein Schwartz, Ida Vanessa; Cornejo, Veronica
- Año de publicación
- 2021
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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; Brasil
Fil: Dos Santos, Bruna Bento. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; Brasil
Fil: 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"; Argentina
Fil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; Argentina
Fil: Pereyra, Marcela. Gobierno de la Provincia de Mendoza. Hospital Pediátrico Humberto Notti; Argentina
Fil: Saborío Rocafort, Manuel. Universidad de Costa Rica; Costa Rica
Fil: Salazar, María Florencia. Universidad de Chile; Chile
Fil: Leal-Witt, María Jesús. Universidad de Chile; Chile
Fil: Castro, Gabriela. Universidad de Chile; Chile
Fil: Peñaloza, Felipe. Universidad de Chile; Chile
Fil: Wong, Sunling Palma. Hospital Nacional de Niños; Costa Rica
Fil: Badilla Porras, Ramsés. Hospital Nacional de Niños; Costa Rica
Fil: Ortiz Paranza, Lourdes. Ministerio de Salud Pública y Bienestar Social; Paraguay
Fil: Sanabria, Marta Cristina. Hospital de Clínicas; Paraguay
Fil: Vela Amieva, Marcela. Instituto Nacional de Pediatría; México
Fil: Morales, Marco. No especifíca;
Fil: Caro Naranjo, Amanda Rocío. Pontificia Universidad Javeriana; Colombia
Fil: Mahfoud, Antonieta. Pontificia Universidad Javeriana; Colombia
Fil: Colmenares, Ana Rosa. Hospital Clinica Caracas-Materno Infantil de Caricuao; Venezuela
Fil: Lemes, Aida. Instituto de Seguridad Social; Uruguay
Fil: Sotillo Lindo, José Fernando. Hospital de especialidades Pediátricas “Omar Torrijos Herrera"; Panamá
Fil: Perez, Ceila. Robert Reid Cabral Children’s Hospital; República Dominicana
Fil: Martínez Rey, Laritza. Centro Nacional de Genética Médica; Cuba
Fil: Zayas Torriente, Georgina María. Centro de Nutrición e Higiene de los Alimentos del Instituto Nacional de Higiene, Epidemiología y Microbiología; Cuba
Fil: Farret Refosco, Lilia. Hospital de Clínicas de Porto Alegre; Brasil
Fil: Doederlein Schwartz, Ida Vanessa. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; Brasil
Fil: Cornejo, Veronica. Universidad de Chile; Chile - Materia
-
LOW-PROTEIN DIET
NEWBORN SCREENING
PHENYLKETONURIA
PKU - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/170556
Ver los metadatos del registro completo
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Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter surveyPoloni, SoraiaDos Santos, Bruna BentoChiesa, Ana ElenaSpecola, NormaPereyra, MarcelaSaborío Rocafort, ManuelSalazar, María FlorenciaLeal-Witt, María JesúsCastro, GabrielaPeñaloza, FelipeWong, Sunling PalmaBadilla Porras, RamsésOrtiz Paranza, LourdesSanabria, Marta CristinaVela Amieva, MarcelaMorales, MarcoCaro Naranjo, Amanda RocíoMahfoud, AntonietaColmenares, Ana RosaLemes, AidaSotillo Lindo, José FernandoPerez, CeilaMartínez Rey, LaritzaZayas Torriente, Georgina MaríaFarret Refosco, LiliaDoederlein Schwartz, Ida VanessaCornejo, VeronicaLOW-PROTEIN DIETNEWBORN SCREENINGPHENYLKETONURIAPKUhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3This 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; ChileMDPI AG2021-07-27info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/170556Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana Elena; Specola, Norma; Pereyra, Marcela; et al.; Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey; MDPI AG; Nutrients; 13; 8; 27-7-2021; 1-102072-6643CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2072-6643/13/8/2566info:eu-repo/semantics/altIdentifier/doi/10.3390/nu13082566info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:47:18Zoai:ri.conicet.gov.ar:11336/170556instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:47:18.64CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| title |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| spellingShingle |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey Poloni, Soraia LOW-PROTEIN DIET NEWBORN SCREENING PHENYLKETONURIA PKU |
| title_short |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| title_full |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| title_fullStr |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| title_full_unstemmed |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| title_sort |
Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey |
| dc.creator.none.fl_str_mv |
Poloni, Soraia Dos Santos, Bruna Bento Chiesa, Ana Elena Specola, Norma Pereyra, Marcela Saborío Rocafort, Manuel Salazar, María Florencia Leal-Witt, María Jesús Castro, Gabriela Peñaloza, Felipe Wong, Sunling Palma Badilla Porras, Ramsés Ortiz Paranza, Lourdes Sanabria, Marta Cristina Vela Amieva, Marcela Morales, Marco Caro Naranjo, Amanda Rocío Mahfoud, Antonieta Colmenares, Ana Rosa Lemes, Aida Sotillo Lindo, José Fernando Perez, Ceila Martínez Rey, Laritza Zayas Torriente, Georgina María Farret Refosco, Lilia Doederlein Schwartz, Ida Vanessa Cornejo, Veronica |
| author |
Poloni, Soraia |
| author_facet |
Poloni, Soraia Dos Santos, Bruna Bento Chiesa, Ana Elena Specola, Norma Pereyra, Marcela Saborío Rocafort, Manuel Salazar, María Florencia Leal-Witt, María Jesús Castro, Gabriela Peñaloza, Felipe Wong, Sunling Palma Badilla Porras, Ramsés Ortiz Paranza, Lourdes Sanabria, Marta Cristina Vela Amieva, Marcela Morales, Marco Caro Naranjo, Amanda Rocío Mahfoud, Antonieta Colmenares, Ana Rosa Lemes, Aida Sotillo Lindo, José Fernando Perez, Ceila Martínez Rey, Laritza Zayas Torriente, Georgina María Farret Refosco, Lilia Doederlein Schwartz, Ida Vanessa Cornejo, Veronica |
| author_role |
author |
| author2 |
Dos Santos, Bruna Bento Chiesa, Ana Elena Specola, Norma Pereyra, Marcela Saborío Rocafort, Manuel Salazar, María Florencia Leal-Witt, María Jesús Castro, Gabriela Peñaloza, Felipe Wong, Sunling Palma Badilla Porras, Ramsés Ortiz Paranza, Lourdes Sanabria, Marta Cristina Vela Amieva, Marcela Morales, Marco Caro Naranjo, Amanda Rocío Mahfoud, Antonieta Colmenares, Ana Rosa Lemes, Aida Sotillo Lindo, José Fernando Perez, Ceila Martínez Rey, Laritza Zayas Torriente, Georgina María Farret Refosco, Lilia Doederlein Schwartz, Ida Vanessa Cornejo, Veronica |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
LOW-PROTEIN DIET NEWBORN SCREENING PHENYLKETONURIA PKU |
| topic |
LOW-PROTEIN DIET NEWBORN SCREENING PHENYLKETONURIA PKU |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
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; Brasil Fil: Dos Santos, Bruna Bento. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; Brasil Fil: 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"; Argentina Fil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; Argentina Fil: Pereyra, Marcela. Gobierno de la Provincia de Mendoza. Hospital Pediátrico Humberto Notti; Argentina Fil: Saborío Rocafort, Manuel. Universidad de Costa Rica; Costa Rica Fil: Salazar, María Florencia. Universidad de Chile; Chile Fil: Leal-Witt, María Jesús. Universidad de Chile; Chile Fil: Castro, Gabriela. Universidad de Chile; Chile Fil: Peñaloza, Felipe. Universidad de Chile; Chile Fil: Wong, Sunling Palma. Hospital Nacional de Niños; Costa Rica Fil: Badilla Porras, Ramsés. Hospital Nacional de Niños; Costa Rica Fil: Ortiz Paranza, Lourdes. Ministerio de Salud Pública y Bienestar Social; Paraguay Fil: Sanabria, Marta Cristina. Hospital de Clínicas; Paraguay Fil: Vela Amieva, Marcela. Instituto Nacional de Pediatría; México Fil: Morales, Marco. No especifíca; Fil: Caro Naranjo, Amanda Rocío. Pontificia Universidad Javeriana; Colombia Fil: Mahfoud, Antonieta. Pontificia Universidad Javeriana; Colombia Fil: Colmenares, Ana Rosa. Hospital Clinica Caracas-Materno Infantil de Caricuao; Venezuela Fil: Lemes, Aida. Instituto de Seguridad Social; Uruguay Fil: Sotillo Lindo, José Fernando. Hospital de especialidades Pediátricas “Omar Torrijos Herrera"; Panamá Fil: Perez, Ceila. Robert Reid Cabral Children’s Hospital; República Dominicana Fil: Martínez Rey, Laritza. Centro Nacional de Genética Médica; Cuba Fil: Zayas Torriente, Georgina María. Centro de Nutrición e Higiene de los Alimentos del Instituto Nacional de Higiene, Epidemiología y Microbiología; Cuba Fil: Farret Refosco, Lilia. Hospital de Clínicas de Porto Alegre; Brasil Fil: Doederlein Schwartz, Ida Vanessa. Universidade Federal do Rio Grande do Sul; Brasil. Hospital de Clínicas de Porto Alegre; Brasil Fil: Cornejo, Veronica. Universidad de Chile; Chile |
| description |
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. |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021-07-27 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
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http://hdl.handle.net/11336/170556 Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana Elena; Specola, Norma; Pereyra, Marcela; et al.; Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey; MDPI AG; Nutrients; 13; 8; 27-7-2021; 1-10 2072-6643 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/170556 |
| identifier_str_mv |
Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana Elena; Specola, Norma; Pereyra, Marcela; et al.; Current practices and challenges in the diagnosis and management of pku in Latin America: A multicenter survey; MDPI AG; Nutrients; 13; 8; 27-7-2021; 1-10 2072-6643 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
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info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2072-6643/13/8/2566 info:eu-repo/semantics/altIdentifier/doi/10.3390/nu13082566 |
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info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
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openAccess |
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https://creativecommons.org/licenses/by/2.5/ar/ |
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application/pdf application/pdf |
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MDPI AG |
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MDPI AG |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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