Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.
Niemann-Pick can occur at any age but mainly affects children. The disease has no known cure and is sometimes fatal. Treatment is focused on helping people live with their symptoms.
Niemann-Pick care at Mayo Clinic
Niemann-Pick signs and symptoms may include:
- Clumsiness and difficulty walking
- Excessive muscle contractions (dystonia) or eye movements
- Sleep disturbances
- Difficulty swallowing and eating
- Recurrent pneumonia
The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood.
When to see a doctor
See your doctor right away if you or your child develops warning signs of Niemann-Pick.
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.
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.
Jan. 25, 2018