Niemann-Pick Type C


Niemann-Pick disease is an inborn genetic error of cholesterol metabolism, belonging to the group of lysosomal storage disorders. It is caused by a mutation in one of two key proteins for transportation of cholesterol within the cell (NPC1 and NPC2), and leads to the accumulation of unesterified cholesterol in the lysosomes of almost all cells of the body. Cholesterol is a very important and normally tightly regulated molecule and excess accumulation has detrimental effects on cell function. NPC normally presents in childhood and eventually leads to hepatic and pulmonary dysfunction, neurodegeneration and premature death.