GBA1 and lysosomal storage disease: Gaucher disease (GD) (OMIM®: 230800) is an autosomal recessive lysosomal storage disease caused by biallelic pathogenic variants in the GBA1 gene, resulting in a deficiency in β-glucocerebrosidase (GCase), impairing the metabolism of ceramides, and leading to a build-up of glucosylceramide (Gb1) in lysosomes [1].