Based on homozygous and compound heterozygous mutations resulting in specific subtypes of Gaucher's disease, GBA mutations can be classified as “mild” (p.N370S and p.R496H) and “severe” [p.L444P, p.D380A, p.R131C, p.D409H, p.R463C, p.R257Q, p.V394L, c.1263-1317del, and RecNciI-a recombinant allele (p.L444P-A456P-V460V)] (10). This evidence concerns the gene GBA1 and Gaucher disease.