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Neurológia pre prax 6/2009
A rare lysosomal disease – Niemann-Pick disease type C
Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurovisceral disease from the group of lysosomal disorders caused by a defect in lipid metabolism. The most common forms are late-infantile and juvenile NPC. The diagnosis is based on the assessment of build-up of free cholesterol in lysosomes and the reduction in cholesterol esterification in fibroblasts (Filipin test). The disease is caused by mutations in the NPC1 (95 %) and NPC2 (4 %) genes. The treatment employs miglustat aimed at reducing the pathological substrate in order to stop the progression of the disease.
Keywords: Niemann-Pick disease type C, NPC1 and NPC2 mutations, substrate reduction therapy (SRT).
