Overview
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., ASMD type A (infantile neurovisceral ASMD) in persons of Ashkenazi Jewish descent3
Affects males and females equally4
Clinical Spectrum of ASMD
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dspectrum-3-3x.png/jcr:content/asm-dspectrum-3@3x.png 1200w)
Gaucher Disease and Acid Sphingomyelinase Pathways
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/overview/asm-dpathways-3x.png/jcr:content/asm-dpathways@3x.png 1200w)
Although the inherited metabolic defect is different for Gaucher disease and ASMD, individuals affected with each disease will experience progressive substrate accumulation within the monocyte/macrophage system.
References:
1. McGovern MM, et al. Genet Med. 2017;19(9):967–974. 2. McGovern MM, et al. Pediatrics. 2008;122(2):341–349. 3. Schuchman EH. J Inherit Metab Dis. 2007;30(5):654–663. 4. McGovern M, et al. Genet Med. 2013;15(8):618–623.
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