Niemann-pick types a/b


What happens because of the associated gene change/mutation in Niemann-Pick disease (SMPD1-associated)?

When there are changes/mutations in the SMPD1 gene, the cell cannot make enough of an enzyme called "acid sphingomyelinase". Without enough of this enzyme, a fat called "sphingomyelin" cannot be broken down into another fat called "ceramide". In Niemann-Pick disease (SMPD1-associated) this leads to a build-up of sphingomyelin in the cell, which damages the cell and causes it to malfunction and eventually die. As this continues, too many cells die and organs are damaged, especially the brain, lungs, liver, and spleen.

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