Tag Archive: Niemann-Pick Disease


A rare disease a day: Niemann-Pick Disease

Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease and Sanfilippo syndrome, Krabbe Disease it is now the turn of Niemann-Pick Disease. In Niemann–Pick (NP) disease sphingomyelin accumulates in lysosomes. Mutations in the SMPD1 gene cause Niemann–Pick types A and B preventing the body …

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