Peroxisomal Disorders

Gerald V Raymond

doi:10.1016/B978-0-12-410529-4.00064-4

Peroxisomal Disorders

Gerald V Raymond

Neurology

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

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 language	English (US)
Title of host publication	Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Fifth Edition
Publisher	Elsevier Inc.
Pages	713-724
Number of pages	12
ISBN (Electronic)	9780124105294
ISBN (Print)	9780124105492
DOIs	https://doi.org/10.1016/B978-0-12-410529-4.00064-4
State	Published - Nov 13 2014

Keywords

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

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10.1016/B978-0-12-410529-4.00064-4

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title = "Peroxisomal Disorders",

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.",

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T1 - Peroxisomal Disorders

AU - Raymond, Gerald V

PY - 2014/11/13

Y1 - 2014/11/13

N2 - 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.

AB - 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.

KW - Adrenoleukodystrophy

KW - Peroxisome

KW - Refsum disease

KW - Very long-chain fatty acids (VLCFA)

KW - Zellweger syndrome

UR - http://www.scopus.com/inward/record.url?scp=84943327882&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84943327882&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-410529-4.00064-4

DO - 10.1016/B978-0-12-410529-4.00064-4

M3 - Chapter

AN - SCOPUS:84943327882

SN - 9780124105492

SP - 713

EP - 724

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

PB - Elsevier Inc.

ER -

Peroxisomal Disorders

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