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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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Institution:Universidad EIA
Main Authors: Sanchez-Alvarez, Nayibe Tatiana, Bautista-Niño, Paula Katherine, Trejos Suárez, Juanita, Serrano-Diaz, Norma Cecilia, CliniUDES
Format: Artículo de revista
Language:English
Published: Ecuador 2021-06-03
Subjects:
Metachromatic leukodystrophy
Treatment
Diagnosis
Prevalence
Online Access:https://repositorio.udes.edu.co/handle/001/6227
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id oai:repositorio.udes.edu.co:001-6227
recordtype dspace
spelling 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
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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
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info:eu-repo/semantics/article
http://purl.org/redcol/resource_type/ARTREV
info:eu-repo/semantics/publishedVersion
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Publication
http://purl.org/coar/access_right/c_abf2
http://purl.org/coar/version/c_970fb48d4fbd8a85
institution Universidad EIA
collection d_repositorio.udes.edu.co-DSPACE
title Metachromatic leukodystrophy: Diagnosis and treatment challenges
spellingShingle 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.
url https://repositorio.udes.edu.co/handle/001/6227
url_str_mv https://repositorio.udes.edu.co/handle/001/6227
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score 11.255725