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Mutations in the GLA gene alter the structure of alpha-gal-A and lead to its markedly deficient or absent activity

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(Left side) Functional alpha-gal-A activity in a person with no mutation in GLA gene or absent activity. As a result, there is no accumulation of unwanted substrate in the lysosome. Also, the enzyme is responsible for removing the terminal galactose sugar from Gb-3, which leads to the formation of lactosylceramide (LacCer). (Right side) The function of alpha-gal-A is altered due to the presence of a mutation in the GLA gene. The latter leads to a buildup of Gb-3. Thus, an accumulation of dysfunctional lysosomes occurs within the cell.

Abbreviations: alpha-gal-A, alpha-galactosidase A; Cer, ceramide; Gal, galactose; Gb-3, globotriaosylceramide; Glu, glucose; LacSer, lactosylceramide; Lysoo-Gb3, globotriaosulsphingosine.

(Source: Coelho-Ribeiro B, Silva HG, Sampaio-Marques B, et al. Inflammation and exosomes in Fabry disease pathogenesis. Cells 2024;13[8]:654. Adapted from: Rocchetti MT, Spadaccino F, Catalano V, et al. Metabolic fingerprinting of Fabry disease: diagnostic and prognostic aspects. Metabolites 2022;12[8]:703. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)