Novel Mutation in an Infant with Niemann-Pick Disease Type A/B

Introduction Niemann-Pick disease (NPD) is a rare autosomal recessively inherited lysosomal storage disorder caused by the deficiency of lysosomal acid sphingomyelinase, which is encoded by the sphingomyelin phosphodiesterase-1 ( SMPD1, MIM# 607608) gene [ Schuchman et al. 1991 ]. This defect results in the accumulation of sphingomyelin and other lipids within cells of the monocyte-macrophage system. Here, we report on an infant with a new frameshift mutation (c.575dupG) of the SMPD1 gene.