Human Pathology
Unlike most fatty acids, phytanic acid cannot be metabolized by β-oxidation. Instead, it undergoes α-oxidation in the peroxisome, where it is converted into pristanic acid by the removal of one carbon. Pristanic acid can undergo several rounds of β-oxidation in the peroxisome to form medium chain fatty acids that can be converted to carbon dioxide and water in mitochondria.
Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have impaired α-oxidation activity and accumulate large stores of phytanic acid in their blood and tissues. This frequently leads to peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss.
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