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

    Overview
    Signs and Symptoms
    Diagnosis
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Clinical Spectrum of ASMD

Gaucher Disease and Acid Sphingomyelinase Pathways

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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