Published: 26 November 2022
Author(s): Maria Domenica Cappellini, Irene Motta, Antonio Barbato, Gaetano Giuffrida, Raffaele Manna, Francesca Carubbi, Fiorina Giona
Section: Original article

Lysosomal storage disorders (LSDs) are a group of inborn errors of metabolism resulting from defects in proteins crucial for lysosomal function [1]. Phenotypic expression is extremely variable and depends on the specific macromolecule accumulated, the production site, and the specific metabolite degradation. Gaucher disease, the most common autosomal recessive LSDs, is caused by a biallelic mutation in the GBA1 gene, which leads to the deficiency of beta-glucocerebrosidase (EC and accumulation of glucosylceramide in the reticuloendothelial system [2].


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