Peroxisomal Disorders

Gerald V Raymond

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Peroxisomes are ubiquitous subcellular organelles. Peroxisomal disorders may be divided into disorders of peroxisome biogenesis and single-enzyme disorders. Nearly all of these disorders are expressed in the nervous system. The most common disorder of the group is X-linked adrenoleukodystrophy, which may develop in either childhood or adulthood with various neurologic manifestations. In contrast are the severe biogenesis disorders that are multisystem and may affect neuronal migration with resultant developmental abnormalities, seizures, and progressive demyelination. The diagnosis of these disorders results on the understanding of the biochemical abnormalities and they may reliably diagnosed by biochemical measures or DNA analysis.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Pages713-724
Number of pages12
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
DOIs
StatePublished - Nov 13 2014

Keywords

  • Adrenoleukodystrophy
  • Peroxisome
  • Refsum disease
  • Very long-chain fatty acids (VLCFA)
  • Zellweger syndrome

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