GBA1 and Gaucher disease: The GBA gene (OMIM #606463) encodes for the lysosomal hydrolase acid b-glucocerebrosidase (GCase), a 497-amino acid membrane glycoprotein of 65 kDa responsible for the breakdown of the glycolipid glucosylceramide to ceramide and glucose, in association with the cofactor Saposin C. Bi-allelic pathogenic variants in the GBA gene cause Gaucher disease (GD), a rare inherited disorder in which the deficient activity of GCase leads to the progressive storage of glucosylceramide and other glycosphingolipids within lysosomes, resulting in multiorgan system disease [1].