Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia

Glycosaminoglycan metabolism disorders bring together a group of alterations of genetic origin whose effect is the progressive intralysosomal accumulation of GAGs. Affected individuals are compromised in a multisystemic way causing, among other clinical manifestations, coarse facial features, short...

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Autores:
Ramírez Borda, Johana Marcela
Tipo de recurso:
Fecha de publicación:
2021
Institución:
Universidad de los Andes
Repositorio:
Séneca: repositorio Uniandes
Idioma:
spa
OAI Identifier:
oai:repositorio.uniandes.edu.co:1992/55031
Acceso en línea:
http://hdl.handle.net/1992/55031
Palabra clave:
Tamizaje selectivo
Valoración
Actividad enzimática
Mucopolisacaridosis
Alpha-iduronidase
Iduronate 2-sulfatase
Alpha-N-acetylglucosaminidase
N-acetylglucosamine-6-sulfate sulfatase
Beta-galactosidase
Arylsulfatase B y Beta-glucuronidase
DBS
Leucocitos
Biología
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-sa/4.0/
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dc.title.eng.fl_str_mv Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
title Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
spellingShingle Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
Tamizaje selectivo
Valoración
Actividad enzimática
Mucopolisacaridosis
Alpha-iduronidase
Iduronate 2-sulfatase
Alpha-N-acetylglucosaminidase
N-acetylglucosamine-6-sulfate sulfatase
Beta-galactosidase
Arylsulfatase B y Beta-glucuronidase
DBS
Leucocitos
Biología
title_short Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
title_full Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
title_fullStr Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
title_full_unstemmed Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
title_sort Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
dc.creator.fl_str_mv Ramírez Borda, Johana Marcela
dc.contributor.advisor.none.fl_str_mv Uribe Ardila, Jesus Alfredo
Lattig Matiz, María Claudia
dc.contributor.author.spa.fl_str_mv Ramírez Borda, Johana Marcela
dc.contributor.jury.spa.fl_str_mv Degado Perafán, María del Pilar
Alméciga Díaz, Carlos Javier
dc.subject.keyword.none.fl_str_mv Tamizaje selectivo
Valoración
Actividad enzimática
Mucopolisacaridosis
Alpha-iduronidase
Iduronate 2-sulfatase
Alpha-N-acetylglucosaminidase
N-acetylglucosamine-6-sulfate sulfatase
Beta-galactosidase
Arylsulfatase B y Beta-glucuronidase
DBS
Leucocitos
topic Tamizaje selectivo
Valoración
Actividad enzimática
Mucopolisacaridosis
Alpha-iduronidase
Iduronate 2-sulfatase
Alpha-N-acetylglucosaminidase
N-acetylglucosamine-6-sulfate sulfatase
Beta-galactosidase
Arylsulfatase B y Beta-glucuronidase
DBS
Leucocitos
Biología
dc.subject.themes.none.fl_str_mv Biología
description Glycosaminoglycan metabolism disorders bring together a group of alterations of genetic origin whose effect is the progressive intralysosomal accumulation of GAGs. Affected individuals are compromised in a multisystemic way causing, among other clinical manifestations, coarse facial features, short stature, multiple skeletal dysplasia, joint stiffness, visceromegaly and developmental delay. The diagnostic approach to these disorders represents a challenge in our context since the required biochemical tests are specialized and only performed in major cities. This makes it difficult to have access to affected patients whose geographical location is distant and therefore, the use of samples collected in solid-phase represents an advantage for the study of high-risk populations. The present study aims to report the experience of twenty years of selective screening by assessing enzyme activity in dried blood spots (DBS) collected on filter paper and leukocyte extracts. The deficiency of the enzymes here studied has been associated with Mucopolysaccharidosis I, II, IIIB, IVA, IVB, VI and VII. The present study assessed a population of 8,239 patients referred for clinical suspicion of MPS. Fluorometric endpoint methods using 4-methylumbelliferone-labeled substrates were used. This study allowed us to establish reference values in the Colombian population for ?-L-iduronidase, iduronate 2-sulfatase, ?-N-acetylglucosaminidase, N-acetylglucosamine-6-sulfate sulfatase, ?-galactosidase, arylsulfatase B and ?-glucuronidase, in DBS and leukocytes. In addition, incidence values were calculated for each of MPS. This study offers very useful information for the health system, the scientific community and facilitates the diagnostic definition of these metabolic disorders in the country.
publishDate 2021
dc.date.issued.none.fl_str_mv 2021
dc.date.accessioned.none.fl_str_mv 2022-02-22T19:49:09Z
dc.date.available.none.fl_str_mv 2022-02-22T19:49:09Z
dc.type.spa.fl_str_mv Trabajo de grado - Maestría
dc.type.driver.spa.fl_str_mv info:eu-repo/semantics/masterThesis
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status_str acceptedVersion
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/1992/55031
dc.identifier.pdf.spa.fl_str_mv 25907.pdf
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identifier_str_mv 25907.pdf
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dc.format.extent.spa.fl_str_mv 34 páginas
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Universidad de los Andes
dc.publisher.program.spa.fl_str_mv Maestría en Ciencias Biológicas
dc.publisher.faculty.spa.fl_str_mv Facultad de Ciencias
dc.publisher.department.spa.fl_str_mv Departamento de Ciencias Biológicas
institution Universidad de los Andes
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spelling Al consultar y hacer uso de este recurso, está aceptando las condiciones de uso establecidas por los autores.http://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Uribe Ardila, Jesus Alfredovirtual::6946-1Lattig Matiz, María Claudiavirtual::6947-1Ramírez Borda, Johana Marcelaf8fa2a33-6e77-4880-a081-c6635099902b500Degado Perafán, María del PilarAlméciga Díaz, Carlos Javier2022-02-22T19:49:09Z2022-02-22T19:49:09Z2021http://hdl.handle.net/1992/5503125907.pdfinstname:Universidad de los Andesreponame:Repositorio Institucional Sénecarepourl:https://repositorio.uniandes.edu.co/Glycosaminoglycan metabolism disorders bring together a group of alterations of genetic origin whose effect is the progressive intralysosomal accumulation of GAGs. Affected individuals are compromised in a multisystemic way causing, among other clinical manifestations, coarse facial features, short stature, multiple skeletal dysplasia, joint stiffness, visceromegaly and developmental delay. The diagnostic approach to these disorders represents a challenge in our context since the required biochemical tests are specialized and only performed in major cities. This makes it difficult to have access to affected patients whose geographical location is distant and therefore, the use of samples collected in solid-phase represents an advantage for the study of high-risk populations. The present study aims to report the experience of twenty years of selective screening by assessing enzyme activity in dried blood spots (DBS) collected on filter paper and leukocyte extracts. The deficiency of the enzymes here studied has been associated with Mucopolysaccharidosis I, II, IIIB, IVA, IVB, VI and VII. The present study assessed a population of 8,239 patients referred for clinical suspicion of MPS. Fluorometric endpoint methods using 4-methylumbelliferone-labeled substrates were used. This study allowed us to establish reference values in the Colombian population for ?-L-iduronidase, iduronate 2-sulfatase, ?-N-acetylglucosaminidase, N-acetylglucosamine-6-sulfate sulfatase, ?-galactosidase, arylsulfatase B and ?-glucuronidase, in DBS and leukocytes. In addition, incidence values were calculated for each of MPS. This study offers very useful information for the health system, the scientific community and facilitates the diagnostic definition of these metabolic disorders in the country.Los desórdenes en el metabolismo de los glicosaminoglicanos (GAGs) reúnen un grupo de alteraciones de origen genético cuyo defecto a nivel celular es la acumulación progresiva intralisosomal de GAGs. Los individuos afectados se ven comprometidos en forma multisistémica causando, entre otras manifestaciones clínicas, rasgos faciales toscos, talla corta, displasias esqueléticas múltiples, rigidez articular, visceromegalias y retraso en el desarrollo. La aproximación diagnóstica de estos desórdenes representa un desafío en nuestro contexto dado que los ensayos bioquímicos requeridos son especializados y sólo se realizan en ciudades principales. Lo anterior hace difícil el acceso a pacientes afectados cuya localización geográfica es distante y por lo tanto, el uso de muestras recolectadas en fase sólida representa una ventaja para el estudio en poblaciones de riesgo, donde es necesaria la remisión de un gran número de muestras sin involucrar procesos de refrigeración. El objetivo del presente estudio es comunicar la experiencia de veinte años de tamizaje selectivo, mediante la valoración de la actividad enzimática en gotas de sangre seca recolectada en papel filtro (DBS) y extractos de leucocitos para las enzimas cuya deficiencia ha sido relacionada con Mucopolisacaridosis I, II, IIIB, IVA, IVB, VI y VII. El presente estudió valoró una población de 8,239 pacientes remitidos por sospecha de MPS. Se utilizaron métodos fluorométricos de punto final usando sustratos marcados con 4-metillumbeliferona. Como enzima control, la actividad de beta-galactosidasa fue estimada para todas las muestras analizadas con el fin de garantizar la viabilidad de estas. Los estudios permitieron establecer valores de referencia en población Colombiana para alpha-iduronidase, Iduronate 2-sulfatase, alpha-N-acetylglucosaminidase, N-acetylglucosamine-6-sulfate sulfatase, Beta-galactosidase, Arylsulfatase B y Beta-glucuronidase, en DBS y leucocitos. Además, se calcularon valores de incidencia paraMagíster en Ciencias BiológicasMaestría34 páginasapplication/pdfspaUniversidad de los AndesMaestría en Ciencias BiológicasFacultad de CienciasDepartamento de Ciencias BiológicasSanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in ColombiaTrabajo de grado - Maestríainfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/acceptedVersionTexthttp://purl.org/redcol/resource_type/TMTamizaje selectivoValoraciónActividad enzimáticaMucopolisacaridosisAlpha-iduronidaseIduronate 2-sulfataseAlpha-N-acetylglucosaminidaseN-acetylglucosamine-6-sulfate sulfataseBeta-galactosidaseArylsulfatase B y Beta-glucuronidaseDBSLeucocitosBiología201414606Publicationhttps://scholar.google.es/citations?user=cKKsleUAAAAJvirtual::6946-1https://scholar.google.es/citations?user=GXeR6rIAAAAJvirtual::6947-10000-0001-5115-9597virtual::6946-10000-0003-2113-9266virtual::6947-1https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000093661virtual::6946-1https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000953407virtual::6947-1f6bdcfcc-b095-4328-9ad1-c609e80506f5virtual::6946-19b1fedcc-3926-4fd0-b70d-4e2db6fff03dvirtual::6947-1f6bdcfcc-b095-4328-9ad1-c609e80506f5virtual::6946-19b1fedcc-3926-4fd0-b70d-4e2db6fff03dvirtual::6947-1THUMBNAIL25907.pdf.jpg25907.pdf.jpgIM Thumbnailimage/jpeg6781https://repositorio.uniandes.edu.co/bitstreams/ce5e0dde-58c7-41dd-b16f-2f7422304ccf/download0b3cd6c565216064e85e695b25ebcc7dMD53ORIGINAL25907.pdfapplication/pdf565556https://repositorio.uniandes.edu.co/bitstreams/bd956ccf-fa2e-4032-b71b-2045421fc848/download4053c06bdd7178a77b56068fe60cb57bMD51TEXT25907.pdf.txt25907.pdf.txtExtracted texttext/plain68530https://repositorio.uniandes.edu.co/bitstreams/1d1252f4-6be2-41ed-97dd-8769725103c5/downloadc9861536902e8df1e8d9c780a3f8eae4MD521992/55031oai:repositorio.uniandes.edu.co:1992/550312024-03-13 13:18:41.946http://creativecommons.org/licenses/by-nc-sa/4.0/open.accesshttps://repositorio.uniandes.edu.coRepositorio institucional Sénecaadminrepositorio@uniandes.edu.co