Large accumulation of sphingomyelins may occur in brain, liver, and spleen and lead to a disease called Niemann-Pick disease.

Inheritance: Autosomal recessive.

Enzyme defect: Deficiency of the enzyme sphingomyleinase, which cannot degraded sphingomyelin in the body; as a result, large amount of sphingomyelin accumulates in tissues and organs of the body, specially in liver, spleen, and brain.