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Overview of Niemann-Pick disease

Marc C Patterson, MD, FRACP
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
John F Dashe, MD, PhD


Niemann-Pick disease (NPD) is a group of autosomal recessive disorders associated with splenomegaly, variable neurologic deficits, and the storage of sphingomyelin.

This topic will review the classification, clinical manifestations, diagnosis, and management of NPD. Other lysosomal storage disorders are discussed separately. (See "Neurologic manifestations of Fabry disease" and "Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis" and "Krabbe disease" and "Metachromatic leukodystrophy" and "Mucopolysaccharidoses: Clinical features and diagnosis".)


Niemann-Pick disease (NPD), also called sphingomyelin-cholesterol lipidosis, is a group of autosomal recessive disorders associated with splenomegaly, variable neurologic deficits, and the storage of sphingomyelin. Niemann-Pick disease originally was defined in terms of its histology as a reticuloendotheliosis. It now is subdivided into two major categories (table 1).

Niemann-Pick disease type A and type B are allelic disorders caused by mutations in the sphingomyelin phosphodiesterase-1 gene (SMPD1), and characterized by a primary deficiency of acid sphingomyelinase activity

Niemann-Pick disease type C is caused by mutations of the NPC1 and NPC2 genes that result in impaired cellular processing and transport of low-density lipoprotein (LDL)-cholesterol

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Literature review current through: Sep 2017. | This topic last updated: Sep 08, 2017.
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