Niemann-Pick type B is caused by a defect in the SMPD1 gene, which results in reduced production of Acid Sphingomyelinase, which causes sphingomyelin to build up in the cells, which in turn ...

Mutations in NPC1 cause Niemann-Pick Type C. Mice lacking NPC1 only in microglia have rampant neuroinflammation ... In their study, first author Lina Dinkel and colleagues found that inactivating Npc1 ...

Zevra Therapeutics' Miplyffa has become the first medicine to be approved by the FDA for the ultra-rare genetic disorder Niemann-Pick disease ... other lipids within cells. That leads to the ...

a group of genetic disorders also known as Niemann-Pick disease, in which a fatty substance called sphingomyelin builds up in cells and caused them to die, disrupting tissue and organ function.