Peroxisomal disorders

Gerald V. Raymond

doi:10.1016/B978-0-12-813955-4.00068-4

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 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 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
Subtitle of host publication	Volume 1
Publisher	Elsevier
Pages	931-942
Number of pages	12
ISBN (Electronic)	9780128139554
DOIs	https://doi.org/10.1016/B978-0-12-813955-4.00068-4
State	Published - Jan 1 2020
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-12-813955-4.00068-4

Cite this

@inbook{9f4320155459451c85872355214c0c5f,

title = "Peroxisomal disorders",

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 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 in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.",

keywords = "Adrenoleukodystrophy, Peroxisome, Refsum disease, Very long chain fatty acids (VLCFAs), Zellweger syndrome",

author = "Raymond, {Gerald V.}",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-813955-4.00068-4",

language = "English (US)",

pages = "931--942",

booktitle = "Rosenberg{\textquoteright}s Molecular and Genetic Basis of Neurological and Psychiatric Disease",

publisher = "Elsevier",

}

TY - CHAP

T1 - Peroxisomal disorders

AU - Raymond, Gerald V.

PY - 2020/1/1

Y1 - 2020/1/1

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 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 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 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 in the understanding of the biochemical abnormalities, and they may reliably be diagnosed by biochemical measures or DNA analysis.

KW - Adrenoleukodystrophy

KW - Peroxisome

KW - Refsum disease

KW - Very long chain fatty acids (VLCFAs)

KW - Zellweger syndrome

UR - http://www.scopus.com/inward/record.url?scp=85124934725&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85124934725&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-813955-4.00068-4

DO - 10.1016/B978-0-12-813955-4.00068-4

M3 - Chapter

AN - SCOPUS:85124934725

SP - 931

EP - 942

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

PB - Elsevier

ER -

Peroxisomal disorders

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this