ASM enzyme deficiency is the underlying cause of ASMD2
ASMD is caused by pathogenic variants in the SMPD1 gene – which encodes acid sphingomyelinase (ASM) – resulting in ASM enzyme deficiency.2
Cell with normal ASM enzyme activity
Cell with deficient ASM enzyme activity
Cell
Lysosome
Sphingomyelin
The following video depicts the mechanism of ASMD pathogenesis