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Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects

Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. In the early stages, FD could involve the pe...

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Autores principales: Rocchetti, Maria Teresa, Spadaccino, Federica, Catalano, Valeria, Zaza, Gianluigi, Stallone, Giovanni, Fiocco, Daniela, Netti, Giuseppe Stefano, Ranieri, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415061/
https://www.ncbi.nlm.nih.gov/pubmed/36005574
http://dx.doi.org/10.3390/metabo12080703
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author Rocchetti, Maria Teresa
Spadaccino, Federica
Catalano, Valeria
Zaza, Gianluigi
Stallone, Giovanni
Fiocco, Daniela
Netti, Giuseppe Stefano
Ranieri, Elena
author_facet Rocchetti, Maria Teresa
Spadaccino, Federica
Catalano, Valeria
Zaza, Gianluigi
Stallone, Giovanni
Fiocco, Daniela
Netti, Giuseppe Stefano
Ranieri, Elena
author_sort Rocchetti, Maria Teresa
collection PubMed
description Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. In the early stages, FD could involve the peripheral nervous system (acroparesthesias and dysautonomia) and the ski (angiokeratoma), but later kidney, heart or central nervous system impairment may significantly decrease life expectancy. The advent of omics technologies offers the possibility of a global, integrated and systemic approach well-suited for the exploration of this complex disease. In this narrative review, we will focus on the main metabolomic studies, which have underscored the importance of detecting biomarkers for a diagnostic and prognostic purpose in FD. These investigations are potentially useful to explain the wide clinical, biochemical and molecular heterogeneity found in FD patients. Moreover, the quantitative mass spectrometry methods developed to evaluate concentrations of these biomarkers in urine and plasma will be described. Finally, the complex metabolic biomarker profile depicted in FD patients will be reported, which varies according to gender, types of mutations, and therapeutic treatment.
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spelling pubmed-94150612022-08-27 Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects Rocchetti, Maria Teresa Spadaccino, Federica Catalano, Valeria Zaza, Gianluigi Stallone, Giovanni Fiocco, Daniela Netti, Giuseppe Stefano Ranieri, Elena Metabolites Review Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. In the early stages, FD could involve the peripheral nervous system (acroparesthesias and dysautonomia) and the ski (angiokeratoma), but later kidney, heart or central nervous system impairment may significantly decrease life expectancy. The advent of omics technologies offers the possibility of a global, integrated and systemic approach well-suited for the exploration of this complex disease. In this narrative review, we will focus on the main metabolomic studies, which have underscored the importance of detecting biomarkers for a diagnostic and prognostic purpose in FD. These investigations are potentially useful to explain the wide clinical, biochemical and molecular heterogeneity found in FD patients. Moreover, the quantitative mass spectrometry methods developed to evaluate concentrations of these biomarkers in urine and plasma will be described. Finally, the complex metabolic biomarker profile depicted in FD patients will be reported, which varies according to gender, types of mutations, and therapeutic treatment. MDPI 2022-07-28 /pmc/articles/PMC9415061/ /pubmed/36005574 http://dx.doi.org/10.3390/metabo12080703 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
Rocchetti, Maria Teresa
Spadaccino, Federica
Catalano, Valeria
Zaza, Gianluigi
Stallone, Giovanni
Fiocco, Daniela
Netti, Giuseppe Stefano
Ranieri, Elena
Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title_full Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title_fullStr Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title_full_unstemmed Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title_short Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
title_sort metabolic fingerprinting of fabry disease: diagnostic and prognostic aspects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415061/
https://www.ncbi.nlm.nih.gov/pubmed/36005574
http://dx.doi.org/10.3390/metabo12080703
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