- Expertise. Mayo Clinic doctors are well acquainted with this complicated disease and are experienced at distinguishing Niemann-Pick from other diseases with similar symptoms. Mayo Clinic has one of the few labs with the ability to run the advanced biochemical and genetic tests required to diagnose Niemann-Pick disease.
- Experience and team approach. Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Specialists from neurology, pulmonary medicine, gastroenterology and hepatology, ophthalmology, and other areas work as a team to accurately diagnose the disease and treat the challenging symptoms.
- Active research. While there is no known cure for Niemann-Pick disease, Mayo Clinic's ongoing research involves studying potential treatments.
Mayo Clinic in Rochester, Minn., is ranked among the Best Hospitals for neurology and neurosurgery by U.S. News & World Report. Mayo Clinic in Scottsdale, Ariz., and Mayo Clinic in Jacksonville, Fla., are ranked high performing for neurology and neurosurgery by U.S. News & World Report.
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- Niemann-Pick types A and B. In these types, a fatty substance called sphingomyelin cannot be broken down (metabolized) by the body because an enzyme called acid sphingomyelinase (ASM) is missing or not working properly. Sphingomyelin and other fats accumulate in the liver and spleen, causing enlargement of these organs, and accumulate in the brain. Type A occurs mainly in infants who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with primary brain disease. Most people affected with type B survive into adulthood.
- Niemann-Pick type C (NPC). NPC is a rare inherited disease. Mutations in one of the NPC1 or NPC2 genes cause cholesterol and other fats to accumulate in the liver, spleen and brain. All parts of the brain are eventually affected. NPC is a progressive disease, and there is no cure. NPC can occur at any age, but most of those affected experience their first symptoms between ages 4 and 10.
- Aster JC, et al. Hematopathology. Philadelphia, Pa.: Saunders Elsevier; 2013. https://www.clinicalkey.com. Accessed Oct. 15, 2013.
- Cruse RP. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 16, 2013.
- Lichtman MA, et al. Williams Hematology. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2010. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=69. Accessed Oct. 16, 2013.
- Niemann-Pick disease overview — Types A, B and C. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_01.html. Accessed Oct. 16, 2013.
- Treatment options for Niemann-Pick disease. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_06.html. Accessed Oct. 16, 2013.