Aug. 19, 2023
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In Fabry dsease, deficiency of GLA activity results in defects in degradation of glycosphingolipids, causing abnormal accumulation of enzyme substrate in the lysosome. (Source: Amodio F, Caiazza M, Monda E, et al. An overview of molecular mechanisms in Fabry disease. Biomolecules 2022;12:1460. Creative Commons Attribution [CC BY] license, creativecommons.org/licenses/by/4.0.)