Sandhoff disease (SD)(MIM 268800) is an autosomal recessive lysosomal lipid storage disorder caused by biallelic variants within the HEXB gene, resulting in deficiency of HEXA and HEXB enzymes [4] and intralysosomal accumulation of GM2 ganglioside and related glycolipids within neurons. This evidence concerns the gene HEXB and lysosomal lipid storage disorder.