Overview

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

Feb. 16, 2017
References
  1. Patterson MC. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 31, 2016.
  2. Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study. Orphanet Journal of Rare Diseases. 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Accessed Oct. 31, 2016.
  3. Niemann-Pick disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Accessed Oct. 31, 2016.