The Role of Nursing in Maple Syrup Urine Disease
Keywords:
Maple Syrup Urine Disease, metabolic diseases, Metabolism, Inborn ErrorsAbstract
Background:
Maple Syrup Urine Disease is a rare condition that affects 1 in every 150,000 live births. Although this disease can present in different ways, the classic presentation usually occurs during the neonatal stage. For this reason, metabolic tests performed on newborns play a crucial role in this disease. Performing these tests correctly is essential for obtaining accurate results. Since nurses are responsible for conducting these tests, it seems relevant to have an in-depth understanding of the correct technique for their execution.
Another fundamental pillar in the treatment of this disease is following a strict and individualized diet. Nursing plays an important role in guiding these patients toward their ideal diet, although they must always be monitored by a nutritionist.
This bibliographic review aims to strengthen the path of nursing research on this disease.
Main Objective: This bibliographic review seeks to raise awareness of this rare disease and define the role of nursing in its management.
Methodology: A bibliographic review was conducted using sources such as PubMed and CINAHL, official protocols, and websites from official institutions.
Main Results:
- Results in PubMed with the following keywords, using the "free full text" filter and limiting the search to 2015-2023: maple syrup disease: 188.
- Results in PubMed with the following keywords, using the "free full text" filter and limiting the search to 2015-2023: maple syrup disease and nurses: 0.
- Results in CINAHL with the following keywords: metabolic screening and neonate, using the "free full text" filter: 6.
Of all the articles found, only three were selected based on their publication date and content.
Main Conclusion: The existing bibliography highlights the lack of a nursing-focused approach in the research on the management of Maple Syrup Urine Disease.
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References
Maple syrup urine disease - About the Disease - Genetic and Rare Diseases Information Center [Internet]. Nih.gov. [citado el 21 de noviembre de 2023]. Disponible en: https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease
Strauss KA, Puffenberger EG, Carson VJ. Maple syrup urine disease. 1993 [citado el 21 de noviembre de 2023]; Disponible en: https://pubmed.ncbi.nlm.nih.gov/20301495/
Hassan SA, Gupta V. Maple syrup urine disease. 2023 [citado el 21 de noviembre de 2023]; Disponible en: https://pubmed.ncbi.nlm.nih.gov/32491705/
Sergas.es. [citado el 29 de noviembre de 2023]. Disponible en: https://sergas.es/Saude-publica/Documents/7090/Listado_enfermedades_castellano.pdf
El niño con leucinosis en la escuela. Información para profesores y cuidadores [Internet]. Guía metabólica. 2011 [citado el 29 de noviembre de 2023]. Disponible en: https://metabolicas.sjdhospitalbarcelona.org/consejo/nino-leucinosis-escuela-informacionprofesores-
cuidadores
Defectos del metabolismo de los aminoácidos ramificados (I): enfermedad de jarabe de arce [Internet]. Guía metabólica. 2019 [citado el 29 de noviembre de 2023]. Disponible en: https://metabolicas.sjdhospitalbarcelona.org/noticia/defectos-metabolismo-aminoacidosramificados-enfermedad-jarabe-arce
Vicenta M, Cañadas L, Navarro Gómez M, Dulín Iñiguez E, Gurtubai IE, Pampols T, et al. Gob.es. [cited 2023 Dec 14]. Available from: https://www.sanidad.gob.es/areas/promocionPrevencion/cribado/docs/CribadoNeonatal_EnfEndocrinometabolicas.pdf
Sorrentino G, Fumagalli M, Milani S, Cortinovis I, Zorz A, Cavallaro G, et al. The impact of automatic devices for capillary blood collection on effi ciency and pain response in newborns: A randomized controlled trial. Int J Nurs Stud [Internet]. 2017;72:24–9. Available from: https://www.sciencedirect.com/science/article/ pii/S0020748917300871
Biblioteca (Sergas) [Internet]. Nnnconsult.com. [cited 2023 Dec 14]. Available from: https://www.nnnconsult.com/nanda/dom
El cambio sea una participación efectiva “la Niñez Para Hacer Que su Participación en, sienta y valore. “ TQSUNQC. Declaración de los Derechos del Niño, 9 [Internet]. Observatoriodelainfancia.es. [cited 2023 Dec 14]. Available from: https://www.observatoriodelainfancia.es/ficherosoia/documentos/33_d_DeclaracionDerechosNino.pdf
Castillalamancha.es. [cited 2023 Dec 14]. Available from: https://www.castillalamancha.es/sites/default/fi les/documentos/pdf/20181017/tecnica_obtencion_muestra.pdf
Saludcastillayleon.es. [cited 2023 Dec 14]. Available from: https://www.saludcastillayleon.es/profesionales/es/programas-guias-clinicas/
programas-salud/programa-deteccion-precozenfermedades-congenitas.ficheros/1675665-protocolo%20toma%20muestras_prueba%20tal%C3%B3n.pdf
Agnew L. 9 alimentos ricos en leucina [Internet]. MYPROTEINTM. 2021 [citado el 21 de diciembre de 2023]. Disponible en: https://www.myprotein.es/thezone/ nutricion/alimentos-ricos-en-leucina/
Liu PL. 9 Aminoácidos esenciales [Internet]. Foodunfolded. com. [citado el 21 de diciembre de 2023]. Disponible en: https://www.foodunfolded.com/es/articulo/9-aminoacidos-esenciales-alimentos-dondepodemos-encontrarlos
Vilaseca MA, Amado J, Catalán N, Egea N, Gutiérrez A, Aláez C, et al. Sjdhospitalbarcelona.org. [citado el 21 de diciembre de 2023]. Disponible en: https://metabolicas. sjdhospitalbarcelona.org/sites/default/files/RecetarioEric.pdf
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