Phytanic acid: production from phytol, its breakdown and role in human disease.

Abstract

Phytanic acid is a branched-chain fatty acid that accumulates in a variety of metabolic disorders. High levels of phytanic acid found in patients can exceed the millimolar range and lead to severe symptoms. Degradation of phytanic acid takes place by alpha-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in alpha-oxidation. Research on Refsum disease, belonging to the latter group of disorders and characterized by a deficiency of the first enzyme of alpha-oxidation, has extended our knowledge of phytanic acid metabolism and pathology of the disease greatly over the past few decades. This review will centre on this research on phytanic acid: its origin, the mechanism by which its alpha-oxidation takes place, its role in human disease and the way it is produced from phytol.

• Authors: D M van den Brink, R J A Wanders
• Journal: Cellular and molecular life sciences : CMLS (Cell Mol Life Sci) Vol. 63 Issue 15 Pg. 1752-65 (Aug 2006) ISSN: 1420-682X [Print] Switzerland
• PMID: 16799769 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Phytanic Acid
• Phytol
• Aldehyde Oxidoreductases
• long-chain-aldehyde dehydrogenase

Topics

• Aldehyde Oxidoreductases (metabolism)
• Chondrodysplasia Punctata, Rhizomelic (metabolism)
• Humans
• Oxidation-Reduction
• Peroxisomal Disorders (metabolism)
• Peroxisomes (metabolism)
• Phytanic Acid (metabolism)
• Phytol (metabolism)
• Protein Transport
• Refsum Disease (metabolism)