Niemann-Pick Disease

Niemann-Pick Disease

Niemann-Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of the enzyme called sphingomyelinase, which leads to the buildup of a fatty substance (sphingomyelin) in cells in the liver, spleen, lymph nodes, and bone marrow. Niemann-Pick disease is most commonly seen in families of Eastern European (Ashkenazi) Jewish heritage.

At least five types of Niemann-Pick disease have been identified. The most common are type A and type B.

  • Type A usually causes symptoms by 6 months of age. Symptoms may include feeding difficulty, vomiting, and abdominal distention from an enlarged spleen and liver. Some babies have a cherry-red spot in the membrane that lines the back of the eye (retina). Infections such as pneumonia are common. Death usually occurs by the age of 4.
  • Type B disease is a milder form that does not affect the brain. Children are usually diagnosed during early childhood because of enlargement of the liver or spleen. Teenagers with type B disease may have frequent lung infections. Most people with type B Niemann-Pick disease live into their 30s or 40s.
  • Type C usually shows up during childhood. It can cause breathing problems, liver disease, developmental delays, seizures, low muscle tone, and feeding problems. It is the rarest type of Niemann-Pick disease. Most people with type C die by the age of 20. The kind of genetic change (mutation) determines whether a person has type C1 or C2.

There is no treatment for Niemann-Pick disease. Support groups and counseling can be helpful for people with Niemann-Pick disease and for their families. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.

Last Revised: March 28, 2012

Author: Healthwise Staff

Medical Review: Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

© 1995-2013 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.