期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
卷 1763, 期 12, 页码 1707-1720出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbamcr.2006.08.010
关键词
peroxisomes; alpha-oxidation; beta-oxidation; Zellweger syndrome; Refsum disease; adrenoleukodystrophy; hyperoxaluria; plasmalogen
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.
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