The SMPD1 gene is positioned on chromosome 11p15.4-p15.1 and containing 6 exons spans approximately ~6 kilobases and encodes a protein of 631 amino acids.6 At present more than 133 missense and nonsense mutations have been reported worldwide in SMPD1 gene related to Niemann-Pick disease spreading coding domains of the gene (Human Gene Mutation Database accessed on 11-02-2019; http://www.hgmd.cf.ac.uk/ac/all.php). This evidence concerns the gene SMPD1 and Niemann-Pick disease.