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Types A and B Niemann-Pick disease.

Edward H Schuchman1, Robert J Desnick1

  • 1Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, United States.

Molecular Genetics and Metabolism
|February 7, 2017
PubMed
Summary

Niemann-Pick disease types A and B are caused by acid sphingomyelinase (ASM) deficiency, leading to lipid storage. Research reviews clinical, biochemical, and genetic aspects of ASM deficiency, focusing on therapeutic advancements.

Keywords:
Acid sphingomyelinaseEnzyme Replacement TherapyMouse modelNiemann-PickSphingomyelin

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Area of Science:

  • Biochemistry
  • Genetics
  • Pathology

Background:

  • Niemann-Pick disease (NPD) encompasses disorders of lipid storage and foam cell infiltration.
  • Two main metabolic abnormalities cause NPD: acid sphingomyelinase (ASM) deficiency (Types A & B) and defective cholesterol transport (Type C).
  • This review focuses on ASM deficiency (ASMD), encompassing Types A and B NPD.

Discussion:

  • Type A ASMD presents with early-onset hepatosplenomegaly and severe central nervous system (CNS) involvement, with a limited lifespan.
  • Type B ASMD features hepatosplenomegaly and lung pathology, with variable onset and progression, often allowing survival into adulthood without CNS signs.
  • Intermediate forms of ASMD may exhibit mild to moderate neurological findings.

Key Insights:

  • All Type A and B ASMD patients possess mutations in the ASM gene (SMPD1).
  • The clinical spectrum of ASMD ranges from severe infantile neurovisceral disease to milder adult-onset forms.
  • Understanding the genetic basis of ASMD is crucial for accurate diagnosis and management.

Outlook:

  • Continued research into the pathophysiology of ASMD is essential.
  • Exploration of novel therapeutic strategies for ASMD is ongoing.
  • Genetic counseling and early diagnosis play vital roles in managing ASMD.