Niemann Pick Type C disease is an autosomal recessive disorder that is passed down by two carriers. There are other types of Niemann Pick Disease, but Type C is set apart by childhood onset in most cases. This disease affects the lipid metabolism and does not allow the body to breakdown cholesterol properly in the body. This inability causes build up of cholesterol in the spleen, liver, lungs, bone marrow, and brain.
The NPC1 gene is found on the 18th Chromosome. Each parent contributes one gene to their child. Carriers have 1 gene that is mutated. Someone with NPC has both of these mutated genes that have been passed down to them by 2 carriers.
Currently, there are only about 500 known cases of this disease worldwide. Although the disease is very rare, research is coming a long way. There are many different treatments and therapies that are being tested to help slow the disease’s progression.
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