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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid.

It was established 20 years ago that phytanic acid is degraded by an initial alpha-oxidation, and that alpha-hydroxyphytanic acid is an intermediate in the reaction. Patients with Refsum's disease, as well as those with the so-called peroxisomal disorders, have an enzymatic defect in this alpha-oxidation. The present work shows that when cultured skin fibroblasts from both groups of patients as well as from healthy controls are incubated with (1-14C)phytanic acid, the only radioactive compounds which can be detected are 14CO2 and unmetabolised phytanic acid. The degradation of (1-14C)alpha-hydroxyphytanic acid to 14CO2 takes place in the mitochondrial fraction of rat liver. Unlabelled alpha-hydroxyphytanic acid added to rat liver homogenate or mitochondria and (1-14C)phytanic acid reduced considerably the production of 14CO2. However, 14C-labelling of the alpha-hydroxyphytanic acid pool did not occur. Thus, we have been unable to confirm the previous demonstration of alpha-hydroxyphytanic acid as an intermediate in the degradation of phytanic acid.[1]

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