Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual

Hereditary disorders of pyrimidines and purine metabolism associated with intellectual disability

dc.creatorOsorio, José Henry
dc.creatorOsorio, Dulcinea
dc.creatorCastro, Juan Carlos
dc.date2019-01-01 00:00:00
dc.date2021-02-14T10:01:06Z
dc.date2019-01-01 00:00:00
dc.date2021-02-14T10:01:06Z
dc.date2019-01-01
dc.date.accessioned2023-09-06T18:18:00Z
dc.date.available2023-09-06T18:18:00Z
dc.identifier1657-9550
dc.identifierhttps://doi.org/10.17151/biosa.2019.18.1.8
dc.identifierhttps://repositorio.ucaldas.edu.co/handle/ucaldas/15992
dc.identifier10.17151/biosa.2019.18.1.8
dc.identifier2462-960X
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8694988
dc.descriptionActualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS, PubMed, IB-PsycINFO, IB-SSCI, IB-SciELO, Scopus y Science Direct. Se seleccionaron 51 referencias, con base en la calidad de la evidencia presentada por las mismas. Resultados: Se obtuvo información pertinente relacionada con los objetivos propuestos en la presente revisión, por lo cual puede clasificarse en dos secciones a saber: alteraciones del metabolismo de las pirimidinas asociadas a retardo mental, alteraciones del metabolismo de las purinas asociadas a retardo mental. Conclusión: Los trastornos hereditarios del metabolismo de las purinas y pirimidinas son un grupo creciente de enfermedades, con las cuales el personal de la salud debe familiarizarse ante la necesidad de un abordaje clínico y de laboratorio específicos. Se hace necesario buscar la posible relación con este tipo de enfermedades en los pacientes que presenten retardo mental, con miras a ofrecer asesoría genética que beneficie a las familias de los pacientes que las sufren.
dc.descriptionTo update the reader on inherited disorders of pyrimidine and purine metabolism related to intellectual disability. Materials and methods: literature available from the past 60 years from BBCs-LILACS, PubMed, IB-PsycINFO, IB-FSS, IB-SciELO, Scopus, and Science Direct databases was analyzed, and 51 references were selected based on the quality of the evidence presented. Results: Relevant information related to the objectives proposed in this review was obtained, and therefore, it can be classified into two sections specifically: alterations in the metabolism of pyrimidines associated with mental retardation, alterations in the metabolism of purines related to mental retardation. Conclusion: Hereditary disorders of purines and pyrimidine metabolism are a growing group of diseases. Health personnel must become familiar to face the need for a specific clinical and laboratory approach. It is necessary to look for the possible relationship of this type of disease in patients with mental retardation, looking to offer genetic counseling that benefits the families of patients who suffer.
dc.formatapplication/pdf
dc.languagespa
dc.publisherUniversidad de Caldas
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dc.relationBiosalud
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dc.relationNúm. 1 , Año 2019 : Enero - Junio
dc.relationhttps://revistasojs.ucaldas.edu.co/index.php/biosalud/article/download/3663/3380
dc.rightsDerechos de autor 2019 Biosalud
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.sourcehttps://revistasojs.ucaldas.edu.co/index.php/biosalud/article/view/3663
dc.subjectinborn errors of metabolism
dc.subjectmental retardation
dc.subjectpurines
dc.subjectpyrimidine
dc.subjecterrores innatos del metabolismo (EIM)
dc.subjectretardo mental
dc.subjectpurinas
dc.subjectpirimidinas
dc.titleTrastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual
dc.titleHereditary disorders of pyrimidines and purine metabolism associated with intellectual disability
dc.typeArtículo de revista
dc.typeSección Artículos de Revisión
dc.typeJournal Article
dc.typehttp://purl.org/coar/resource_type/c_6501
dc.typeText
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/version/c_970fb48d4fbd8a85


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