Niemann-Pick type C (NPC) disease is a lysosomal storage disorder that is caused by the mutation of either NPC1 or NPC2 proteins.[6–8] Because NPC1 and NPC2 play a central role in the transport of lysosomal cholesterol derived from low-density lipoprotein (LDL) to the endoplasmic reticulum (ER), their deficiencies result in the accumulation of cholesterol in lysosomes.[9,10] As a result of lysosomal cholesterol accumulation, patients with this disease present fatal clinical symptoms such as progressive neurodegeneration and hepatosplenomegaly. This evidence concerns the gene NPC2 and lysosomal storage disease.