Causes

Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.

Niemann-Pick is a progressive disease, and there is no cure. It can occur at any age.

Types of Niemann-Pick

Types A and B

Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase. This affects the body's ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with primary brain disease. Most people affected with type B survive into adulthood.

Type C

Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.