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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.
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
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