Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of the enzyme α-galactosidase A (α-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide (Gb3) and its deacylated form, globotriaos...

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Vydáno v:	International journal of molecular sciences Ročník 26; číslo 15; s. 7054
Hlavní autoři:	Biddeci, Giuseppa, Spinelli, Gaetano, Colomba, Paolo, Duro, Giovanni, Giacalone, Irene, Di Blasi, Francesco
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Switzerland MDPI AG 22.07.2025 MDPI
Témata:	Adolescence alpha-Galactosidase - genetics alpha-Galactosidase - metabolism Animals Child development Disease Disease Progression Enzymes Fabry Disease - genetics Fabry Disease - metabolism Fabry Disease - pathology Females Genetic counseling Genetic testing Genotype & phenotype Humans Inflammation Inflammation - metabolism Inflammation - pathology Males Mutation Patients Review Trihexosylceramides - metabolism Tumor necrosis factor-TNF X chromosomes Fabry disease p65 iso5 NF-κB inflammation lysosomal storage disorder
ISSN:	1422-0067, 1661-6596, 1422-0067
On-line přístup:	Získat plný text
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Popis
Shrnutí:	Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of the enzyme α-galactosidase A (α-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide (Gb3) and its deacylated form, globotriaosylsphingosine (Lyso-Gb3), in various tissues, contributing to a broad spectrum of clinical manifestations. Recent evidence highlights the crucial role of inflammation in the pathophysiology of FD, influencing disease progression and clinical outcomes. This review provides a comprehensive overview of the relationship between inflammation and FD, with a particular focus on the impact of inflammatory processes on disease progression and complications.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23
ISSN:	1422-0067 1661-6596 1422-0067
DOI:	10.3390/ijms26157054