
Niemann-Pick diseases (NPD) are a group of rare, inherited lysosomal storage disorders that manifest in a range of symptoms depending on the specific type and severity. These disorders can affect individuals of any age, from infants to adults, and are characterized by the harmful accumulation of substances within the body’s cells. Acid sphingomyelinase deficiency (ASMD), comprising Niemann-Pick Types A and B, occurs due to a shortage of the enzyme acid sphingomyelinase, leading to the buildup of toxic lipids. Type A is often more severe, presenting in infancy with neurological decline, while Type B tends to have a later onset with primarily visceral symptoms. Niemann-Pick Type C differs in its pathology, as it is not enzyme-related; instead, it results from genetic mutations that disrupt the transport of cholesterol and lipids within cells.