- 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.
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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 individuals 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 about half of those affected have symptoms before age 10.
Below is a helpful Internet resource on this topic. Mayo Clinic does not own or control this site and is not responsible for the content. Inclusion of this site does not imply endorsement by Mayo Clinic.
National Niemann-Pick Disease Foundation
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Nov. 19, 2012