Niemann-pick types a/b
What gene change/mutation causes Niemann-Pick disease (SMPD1-associated)?
Niemann-Pick disease (SMPD1-associated) is caused by changes/mutations in the SMPD1 gene (sphingomyelin phosphodiesterase 1). Both types A and B are caused by changes/mutations in this gene. SMPD1 gives instructions to produce an enzyme called "acid sphingomyelinase", which is found in the lysosomes of the cell. Lysosomes are the part of the cell that help break down and recycle molecules and waste. Acid sphingomyelinase helps to break down a specific fat (called sphingomyelin) into another type of fat (called ceramide). Since sphingomyelin fat cannot be broken down in the cell, the fat builds up and the cell is unable to function properly and eventually dies.