Chaperone Therapy in Fabry Disease

Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including th...

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Autores principales: Weidemann, Frank, Jovanovic, Ana, Herrmann, Ken, Vardarli, Irfan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836454/
https://www.ncbi.nlm.nih.gov/pubmed/35163813
http://dx.doi.org/10.3390/ijms23031887
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author Weidemann, Frank
Jovanovic, Ana
Herrmann, Ken
Vardarli, Irfan
author_facet Weidemann, Frank
Jovanovic, Ana
Herrmann, Ken
Vardarli, Irfan
author_sort Weidemann, Frank
collection PubMed
description Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.
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spelling pubmed-88364542022-02-12 Chaperone Therapy in Fabry Disease Weidemann, Frank Jovanovic, Ana Herrmann, Ken Vardarli, Irfan Int J Mol Sci Review Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease. MDPI 2022-02-08 /pmc/articles/PMC8836454/ /pubmed/35163813 http://dx.doi.org/10.3390/ijms23031887 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Weidemann, Frank
Jovanovic, Ana
Herrmann, Ken
Vardarli, Irfan
Chaperone Therapy in Fabry Disease
title Chaperone Therapy in Fabry Disease
title_full Chaperone Therapy in Fabry Disease
title_fullStr Chaperone Therapy in Fabry Disease
title_full_unstemmed Chaperone Therapy in Fabry Disease
title_short Chaperone Therapy in Fabry Disease
title_sort chaperone therapy in fabry disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836454/
https://www.ncbi.nlm.nih.gov/pubmed/35163813
http://dx.doi.org/10.3390/ijms23031887
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AT jovanovicana chaperonetherapyinfabrydisease
AT herrmannken chaperonetherapyinfabrydisease
AT vardarliirfan chaperonetherapyinfabrydisease

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