Video - Niemann-Pick disease type C

Niemann-Pick disease type C is a rare genetically inherited condition, caused by mutations in the NPC1 or NPC2 genes. These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems. This causes cholesterol to accumulate in lysosomes, resulting in brain, bone marrow, liver, spleen and lung damage.

Symptoms of Niemann-Pick disease type C typically begin in childhood and may include difficulty with movement and balance, difficulty swallowing, developmental delays, and progressive intellectual disability. There may also be hepatosplenomegaly, and liver failure.