Neurol. praxi. 2009;10(6):394-395
A rare lysosomal disease - Niemann-Pick disease type C
- 1 Klinika detskej neurológie LF UK, Detská fakultná nemocnica s poliklinikou, Bratislava
- 2 SAV, Bratislava
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).
Published: January 1, 2010 Show citation
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References
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