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Molecular genetics and metabolism

Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.


PMID 15110319

Abstract

Phytol is a branched chain fatty alcohol, which is abundantly present in nature as part of the chlorophyll molecule. In its free form, phytol is metabolized to phytanic acid, which accumulates in patients suffering from a variety of peroxisomal disorders, including Refsum disease. The breakdown of phytol to phytanic acid takes place in three steps, in which first, the alcohol is converted to the aldehyde, second the aldehyde is converted to phytenic acid, and finally the double bond is reduced to yield phytanic acid. By culturing fibroblasts in the presence of phytol, increases in the levels of phytenic and phytanic acid were detected. Interestingly, fibroblasts derived from patients affected by Sjögren Larsson syndrome (SLS), known to be deficient in microsomal fatty aldehyde dehydrogenase (FALDH) were found to be deficient in this. In addition, fibroblast homogenates of these patients, incubated with phytol in the presence of NAD+ did not produce any phytenic acid. This indicates that FALDH is involved in the breakdown of phytol.

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