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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
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.
Current as of:
March 12, 2014
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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