Metachromatic leukodystrophy: Diagnosis and treatment challenges
Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and sys...
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Ecuador
2021-06-03
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Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia CliniUDES 2022-03-02T21:10:23Z 2022-03-02T21:10:23Z 2021-06-03 Digital Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and systemic symptoms. Objective. Carry out an updated bibliographic search on the most critical advances in the treatment and diagnosis for LDM. A retrospective topic review published in English and Spanish in the Orphanet and Pubmed databases. Current treatment options, such as enzyme replacement therapy and hematopoietic stem cell transplantation aimed at decreasing the rapid progression of the disease, improving patient survival; however, these are costly. The pathophysiological events of intracellular signaling related to the deficiency of the enzyme Arylsulfatase A and subsequent accumulation of sulphatides and glycosylated ceramides have not yet been established. Recently, the accumulation of C16 sulphatides has been shown to inhibit glycolysis and insulin secretion in pancreatic cells. The significant advance in technology has allowed timely diagnosis in patients suffering from LDM; however, they still do not have an effective treatment. Ciencias Médicas y de la Salud 8 p application/pdf http://dx.doi.org/10.21931/RB/2021.06.03.32 https://repositorio.udes.edu.co/handle/001/6227 eng Ecuador 2090 3 2083 6 Scopus Revista Bionatura Derechos Reservados - Los Autores info:eu-repo/semantics/openAccess Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0) https://creativecommons.org/licenses/by-nc-nd/4.0/ https://www.revistabionatura.com/2021.06.03.32.html Metachromatic leukodystrophy Treatment Diagnosis Prevalence Metachromatic leukodystrophy: Diagnosis and treatment challenges Artículo de revista http://purl.org/coar/resource_type/c_dcae04bc Text info:eu-repo/semantics/article http://purl.org/redcol/resource_type/ARTREV info:eu-repo/semantics/publishedVersion Todas las Audiencias Publication http://purl.org/coar/access_right/c_abf2 http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia CliniUDES Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
title_short |
Metachromatic leukodystrophy: Diagnosis and treatment challenges |
title_full |
Metachromatic leukodystrophy: Diagnosis and treatment challenges |
title_fullStr |
Metachromatic leukodystrophy: Diagnosis and treatment challenges |
title_full_unstemmed |
Metachromatic leukodystrophy: Diagnosis and treatment challenges |
title_sort |
metachromatic leukodystrophy: diagnosis and treatment challenges |
author |
Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia CliniUDES |
author_facet |
Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia CliniUDES |
building |
Repositorio digital |
topic |
Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
topic_facet |
Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
publishDate |
2021-06-03 |
language |
English |
publisher |
Ecuador |
physical |
8 p |
format |
Artículo de revista |
description |
Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and systemic symptoms. Objective. Carry out an updated bibliographic search on the most critical advances in the treatment and diagnosis for LDM. A retrospective topic review published in English and Spanish in the Orphanet and Pubmed databases. Current treatment options, such as enzyme replacement therapy and hematopoietic stem cell transplantation aimed at decreasing the rapid progression of the disease, improving patient survival; however, these are costly. The pathophysiological events of intracellular signaling related to the deficiency of the enzyme Arylsulfatase A and subsequent accumulation of sulphatides and glycosylated ceramides have not yet been established. Recently, the accumulation of C16 sulphatides has been shown to inhibit glycolysis and insulin secretion in pancreatic cells. The significant advance in technology has allowed timely diagnosis in patients suffering from LDM; however, they still do not have an effective treatment.
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https://repositorio.udes.edu.co/handle/001/6227 |
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https://repositorio.udes.edu.co/handle/001/6227 |
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1763050750162763776 |
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11.255725 |