Peroxisomal disorders: The single peroxisomal enzyme deficiencies

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...

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Bibliographic Details
Published in:Biochimica et biophysica acta 2006-12, Vol.1763 (12), p.1707-1720
Main Authors: Wanders, Ronald J.A., Waterham, Hans R.
Format: Article
Language:English
Subjects:
Adrenoleukodystrophy
Alpha-oxidation
Beta-oxidation
Fatty Acids - metabolism
Glyoxylates - metabolism
Humans
Hydrogen Peroxide - metabolism
Hyperoxaluria
Oxidation-Reduction
Peroxisomal Disorders - etiology
Peroxisomal Disorders - genetics
Peroxisomal Disorders - metabolism
Peroxisomes
Peroxisomes - enzymology
Plasmalogen
Plasmalogens - metabolism
Refsum disease
Zellweger syndrome
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Summary: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) H 2O 2 metabolism.
ISSN:0167-4889
0006-3002
1879-2596
DOI:10.1016/j.bbamcr.2006.08.010