Therapeutic Breakthroughs in Niemann-Pick Type C Disease

added blog Health

2025-06-17 09:02:41

Niemann-Pick Type C (NPC) is a rare, autosomal recessive lysosomal storage disorder marked by defective intracellular lipid trafficking. Characterized by progressive neurodegeneration, hepatosplenomegaly, and ataxia, NPC is driven by mutations in the NPC1 (95%) or NPC2 (5%) genes. These defects impair cholesterol and glycosphingolipid transport, leading to their accumulation within cells,...

0 Comments 0 Shares 30 Views 0 Reviews