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  • Acid Sphingomyelinase Deficiency, ASMD, historically known as Niemann-Pick disease (NPD) types A, A/B and B, is a rare, autosomal recessive disease caused by a deficiency of acid sphingomyelinase resulting from pathogenic variants in the SMPD1 gene1
    • Sphingomyelin accumulates in cells mainly of the mononuclear phagocytic system
    • Organs most affected: liver, spleen, lungs, nervous system, and skeletal system1
  • Estimated worldwide incidence is 0.4 to 0.6 in 100,000 newborns2
    • Current numbers are likely underestimated3
  •  Panethnic3
    • Specific types of ASMD are more prevalent in certain ethnic groups, e.g., infantile neurovisceral ASMD (NPD A) in persons of Ashkenazi Jewish descent3
  • Affects males and females equally4

 

Clinical Spectrum of ASMD

ASMDspectrum

 

Gaucher Disease and Acid Sphingomyelinase Pathways
 
ASMDpathways
 

Although the inherited metabolic defect is different for Gaucher disease and ASMD, individuals affected with both diseases will experience progressive substrate accumulation within the monocyte/macrophage system.

1. McGovern MM, et al. Genet Med. 2017;19(9):967-974
2. McGovern MM, Wasserstein MP, Giugliani R, et al. Pediatrics. 2008;122(2):341-349
3. Schuchman EH. J Inherit Metab Dis. 2007;30(5):654-663
4. McGovern M, Lippa N, Bagiella E, et al. Genet Med. 2013;15(8):618-623

 

 

 

 

 

Last Updated: Feb 5, 2021
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