TY - CHAP M1 - Book, Section TI - Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies A1 - Schuchman, Edward H. A1 - McGovern, Margaret M. A1 - Desnick, Robert J. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.418 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - Limited information is available regarding the demographics of acid sphingomyelinase (ASM) deficiency. Two reports from the Netherlands and Australia examined the combined frequency of types A and B Niemann-Pick disease (NPD) among the total number of individuals diagnosed with lysosomal storage disorders, and estimated a birth rate of ~0.5 and ~0.4 per 100,000, respectively (Meikle et al, 1999; Weavers et al, 1999). However, since these numbers were based on the number of diagnosed cases only, they are likely to underrepresent the true frequencies because less severe patients often are not recognized by clinicians, and therefore are not referred to diagnostic laboratories. The only population in which DNA-based screening has taken place is the Ashkenazi Jewish community, where the carrier frequency of three common mutations causing type A NPD was found to be ~1:80 (Schuchman, Miranda,1997), leading to an estimated birth rate of ~3 per 100,000 for this form of the disorder. However, due to the widespread use of DNA-based carrier testing and prenatal diagnosis in this community, the actual birth rate of type A NPD individuals in this group is likely to be lower. SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.418 Y2 - 2024/03/29 UR - ommbid.mhmedical.com/content.aspx?aid=1181464917 ER -