Peroxisomal disorders

Gerald V. Raymond

doi:10.1016/B978-0-443-19041-4.00061-3

Peroxisomal disorders

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Peroxisomal 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 that may develop in either childhood or adulthood with various neurologic manifestations. In contrast, the severe biogenesis disorders are multisystem and may affect neuronal migration with resultant developmental abnormalities, seizures, and progressive demyelination. The diagnosis of these disorders results in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.

Original language	English (US)
Title of host publication	Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition
Subtitle of host publication	Volume 1
Publisher	Elsevier
Pages	887-896
Number of pages	10
Volume	1
ISBN (Electronic)	9780443190414
ISBN (Print)	9780443190421
DOIs	https://doi.org/10.1016/B978-0-443-19041-4.00061-3
State	Published - Jan 1 2024
Externally published	Yes

Keywords

adrenoleukodystrophy
Peroxisome
very long chain fatty acids (VLCFAs)
Zellweger syndrome

ASJC Scopus subject areas

General Medicine
General Neuroscience

Access to Document

10.1016/B978-0-443-19041-4.00061-3

Cite this

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abstract = "Peroxisomal 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 that may develop in either childhood or adulthood with various neurologic manifestations. In contrast, the severe biogenesis disorders are multisystem and may affect neuronal migration with resultant developmental abnormalities, seizures, and progressive demyelination. The diagnosis of these disorders results in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.",

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N2 - Peroxisomal 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 that may develop in either childhood or adulthood with various neurologic manifestations. In contrast, the severe biogenesis disorders are multisystem and may affect neuronal migration with resultant developmental abnormalities, seizures, and progressive demyelination. The diagnosis of these disorders results in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.

AB - Peroxisomal 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 that may develop in either childhood or adulthood with various neurologic manifestations. In contrast, the severe biogenesis disorders are multisystem and may affect neuronal migration with resultant developmental abnormalities, seizures, and progressive demyelination. The diagnosis of these disorders results in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.

KW - adrenoleukodystrophy

KW - Peroxisome

KW - very long chain fatty acids (VLCFAs)

KW - Zellweger syndrome

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U2 - 10.1016/B978-0-443-19041-4.00061-3

DO - 10.1016/B978-0-443-19041-4.00061-3

M3 - Chapter

AN - SCOPUS:85213563411

SN - 9780443190421

VL - 1

SP - 887

EP - 896

BT - Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition

PB - Elsevier

ER -

Peroxisomal disorders

Abstract

Keywords

ASJC Scopus subject areas

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