Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease without gender predilection, with an estimated frequency of 0.4–1 in 100,000 newborns [1], characterized by deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12). Here, SMPD1 is linked to Niemann-Pick disease.