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Niemann-Pick disease type C
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Niemann-Pick disease type C, or NPC, is a rare genetically inherited condition caused by mutations in either the NPC1 or NPC2 genes.
These mutations impair intracellular transport of cholesterol and other molecules, which causes progressive neurologic and developmental problems.
Then, cholesterol reaches the early-endosome, which is an intracellular organelle that eventually matures into a late-endosome, and finally into a lysosome.
So with NPC1 or NPC2 mutations, intracellular cholesterol transport is impaired, so cholesterol accumulates inside lysosomes instead. Mutations can affect people of all ethnic backgrounds, and they’re inherited in an autosomal recessive pattern, which means that an affected individual must have two copies of the mutated gene, one from each parent.
Cholesterol buildup affects almost all cells, so it causes a variety of symptoms.
The brain and bone marrow are often affected.
The liver and spleen can be affected too, in which case, they enlarge.
Liver enlargement disrupts bile flow, causing bilirubin to accumulate in the blood.
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.
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