Niemann-Pick disease overview

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Overview

Niemann-Pick disease (NPD) is a group of autosomal recessive disorders that are classified into two broad types. Types A and B NPD are lysosomal storage diseases due to sphingomyelinase deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as cholesterol, sphingomyelin, and bisphosphonate in various organs.

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