Peroxisomal disorders: The single peroxisomal enzyme deficiencies

被引：191

作者：

Wanders, Ronald J. A. ^{[1
]}

Waterham, Hans R. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH | 2006年 / 1763卷 / 12期

关键词：

peroxisomes; alpha-oxidation; beta-oxidation; Zellweger syndrome; Refsum disease; adrenoleukodystrophy; hyperoxaluria; plasmalogen;

D O I：

10.1016/j.bbamcr.2006.08.010

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Peroxisomal disorders are a group of inherited diseases in man in which either peroxisome biogenesis or one or more peroxisomal functions are impaired. The peroxisomal disorders identified to date are usually classified in two groups including: (1) the disorders of peroxisome biogenesis, and (2) the single peroxisomal enzyme deficiencies. This review is focused on the second group of disorders, which currently includes ten different diseases in which the mutant gene affects a protein involved in one of the following peroxisomal functions: (1) ether phospholipid (plasmalogen) biosynthesis; (2) fatty acid beta-oxidation; (3) peroxisomal alpha-oxidation; (4) glyoxylate detoxification, and (5) H2O2 metabolism. (c) 2006 Elsevier B.V. All rights reserved.

引用

页码：1707 / 1720

页数：14

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