Types A and B Niemann-pick disease

Melissa P. Wasserstein, Robert J. Desnick, Edward H. Schuchman

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations

Abstract

Types A and B Niemann-Pick disease (NPD) are two distinct forms of a lysosomal storage disease (LSD) caused by the inherited deficiency of acid sphingomyelinase (ASM) activity. The three forms of NPD are referred to as infantile neurovisceral (type A), chronic neurovisceral (type A/B), and chronic visceral (type B) ASM deficiency (ASMD). ASMD is a rare genetic disease, and limited information is available regarding its demographics and incidence. Several polymorphisms also have been found within the gene, including a varying number of repeated nucleotides within the ASM signal peptide region. Identification of mutations in ASM-deficient NPD patients has permitted the first genotype/phenotype correlations for this disease and the first genetic screening efforts. The primary organ systems affected in all ASM deficient patients are the spleen, liver, and lung. Infants with type A NPD typically develop failure to thrive by 15 months of age as their neurologic disease begins its rapid progression.

Original languageEnglish
Title of host publicationLysosomal Storage Disorders
Subtitle of host publicationA Practical Guide
Publisherwiley
Pages126-133
Number of pages8
ISBN (Electronic)9781119697312
ISBN (Print)9781119697282
DOIs
StatePublished - 22 Jul 2022

Keywords

  • Acid sphingomyelinase deficiency
  • Lysosomal storage disease
  • Repeated nucleotides
  • Type A Niemann-Pick disease
  • Type B Niemann-Pick disease

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