Types A and B Niemann-Pick Disease

Edward H. Schuchman, Melissa P. Wasserstein

Research output: Contribution to journalReview article

5 Citations (Scopus)

Abstract

Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections, and profound central nervous system involvement in infancy. They rarely survive beyond two years of age. Type B patients also have hepatosplenomegaly and progressive alterations of their lungs, but there are usually no central nervous system signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Recently, patients with phenotypes intermediate between types A and B NPD also have been identified. These individuals represent the expected continuum caused by inheriting different mutations in the ASM gene (SMPD1). Patients in the second category are designated as having type C NPD. Impaired intracellular trafficking of cholesterol causes type C NPD, and two distinct gene defects have been found. In this chapter only types A and B NPD will be discussed.

Original languageEnglish (US)
Pages (from-to)674-681
Number of pages8
JournalPediatric Endocrinology Reviews
Volume13
StatePublished - Jun 1 2016
Externally publishedYes

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Type B Niemann-Pick Disease
Type A Niemann-Pick Disease
Type C Niemann-Pick Disease
Sphingomyelin Phosphodiesterase
Acids
Niemann-Pick Diseases
Eponyms
Central Nervous System Infections
Lung
Age of Onset
Genes
Disease Progression
Central Nervous System
Cholesterol
Phenotype
Mutation
Enzymes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Types A and B Niemann-Pick Disease. / Schuchman, Edward H.; Wasserstein, Melissa P.

In: Pediatric Endocrinology Reviews, Vol. 13, 01.06.2016, p. 674-681.

Research output: Contribution to journalReview article

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