Lipidoses

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Lipidosis is a term, now infrequently used, that describes families of genetic disorders characterized by the storage of excess lipid molecules in neurons and other nervous system and somatic cells, proportionate to the normal distribution of these compounds. The most severe forms of almost all of these diseases manifest progressive neurodegeneration, with or without somatic, cutaneous, or ocular findings that allow the differential diagnosis to be narrowed. Hematopoietic stem cell transplantation, enzyme replacement, and enzyme enhancement therapy are all treatment options available or under investigation for these diseases.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages901-902
Number of pages2
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

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Keywords

  • Adrenoleukodystrophy
  • Fabry
  • Krabbe
  • Leukodystrophy
  • Lipidosis
  • Lysosomal storage
  • Metachromatic leukodystrophy
  • Niemann-Pick
  • Peroxisomal disease
  • Sandhoff
  • Tay-Sachs

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Patterson, M. C. (2014). Lipidoses. In Encyclopedia of the Neurological Sciences (pp. 901-902). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00091-9