Niemann-Pick disease is a rare, multiple system disease caused by an inherited genetic mutation. The mutation results in the body's inability to metabolize lipids and leads to organ damage and degeneration and, eventually, death. The severity, symptoms, and prognosis of the disorder depend on the affected gene. Three forms exist: types A, B, and C. There is no cure for Niemann-Pick disease, and treatment aims to manage symptoms. Niemann-Pick is rare, with types A and B occurring in 1 out of 250,000 people and type C occurring in 1 out of 150,000.
Niemann-Pick disorder affects the body's ability to metabolize cholesterol and lipids in the cells. As a result, lipids accumulate in the vital organs, including the brain, liver, lungs, and bone marrow, leading to progressive degeneration in the organs affected. The disorder's type (A, B, or C) is classified based on the underlying gene mutation as well as the severity of the symptoms. Niemann-Pick is primarily diagnosed in infants, though the disease might not present until later in life.
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