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Niemann-Pick disease is a group of problems with body’s metabolism. Fatty material builds up in vital organs, such as the brain.
There are four main types:
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Niemann-Pick disease is inherited. Both parents must carry the faulty gene for their child to get the disease. The cause depends on the type of Niemann-Pick disease.
A fatty material called sphingomyelin builds up in the organs. This substance is present in the membrane of most cells. The enzyme sphingomyelinase breaks down this substance. People with type A or B either do not have enough of this enzyme or this enzyme does not work the right way. Without the working enzyme, this fatty material builds up in the cells. The cells die and the organ does not work the right way.
In these two types, nerve cells in the brain are not able to move cholesterol out. It builds up, which keeps cells from working the right way.
This disease affects the following people:
Symptoms of Niemann-Pick disease may happen during infancy, childhood, or the teen years. Symptoms vary. They worsen over time.
Symptoms start within the first few months of life. They may be:
Symptoms start during pre-teen years. They may be:
Symptoms may start in infancy, childhood, or teen years. They may be:
You will be asked about your child’s symptoms and health history. A physical exam will be done.
Your child may have:
Niemann-Pick disease can’t be treated. Treatment is aimed at easing symptoms. For example, those with type B may be given oxygen to help with lung problems.
There is no known way to prevent Niemann-Pick disease. If you have Niemann-Pick disease or have a family history of it, you can talk to a genetic counselor when deciding to have children.
National Institute of Neurological Disorders and Stroke
National Niemann-Pick Disease Foundation, Inc.
Canadian Chapter—National Niemann-Pick Disease Foundation
Niemann-Pick disease. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated July 3, 2018. Accessed July 6, 2018.
Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at: http://www.nnpdf.org/npdisease_01.html. Updated September 9, 2009. Accessed July 6, 2018.
NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page. Accessed July 6, 2018.
Last reviewed May 2018 by Kari Kassir, MD Last Updated: 7/6/2018