Niemann-Pick disease (NPD) interferes with the breakdown of lipids (fats) and cholesterol in the body in a way that causes harmful amounts of lipids to build up in the spleen, liver, lungs, bone marrow, and brain.
NPD belongs to a group of inherited disorders known as leukodystrophies, or lipid storage disorders.
NPD is a relatively rare disease: the incidence of NPD type A and B is 1 in 250,000, and NPD type C affects one out of every 150,000 live births. However, certain populations may be affected more frequently by NPD.
There are five identified types of NPD: type A, type B, type C, type D, and type E.
NPD types A and B, also called type I NPD, are caused by low levels of an enzyme called acid sphingomyelinase, which is required to break down a lipid called sphingomyelin. Sphingomyelin is found in all cells in the body. When sphingomyelin is not metabolized properly, it builds up in cells, resulting in organ failure.
NPD type A occurs in infants and primarily affects the brain and liver. People with NPD type A rarely survive beyond 18 months of age.
Symptoms of NPD type B usually develop in the preteen years and affect the liver, lung, and spleen. Lung infections are common, and overall growth is impaired. Unlike NPD type A, the brain is not affected in NPD type B.
NPD types C and D, also called type II NPD, are characterized by a defect that disrupts the movement of cholesterol between brain cells.
NPD types C and D may appear anytime between infancy and adulthood. People with NPD types C or D have only moderate enlargement of the spleen and liver, but brain damage may be extensive.
NPD type D has only been identified in the French-Canadian population of Nova Scotia and is believed to be a form of NPD type C.NPD type E occurs in adults and is extremely rare. Symptoms include swelling of the spleen and neurological problems.
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