Rare genetic disease characterized by defective oxidation of fatty acids. Symptoms include defective night vision, tremors, and other neurologic symptoms caused by an accumulation of phytanic acid, a metabolite of chlorophyll.
An uncommon genetic condition impacting the body’s lipid metabolism, responsible for fat processing. Refsum’s disease results in elevated quantities of phytanic acid, a type of fatty acid, within the body.
A key indication involves polyneuritis, characterized by nerve inflammation throughout the body, leading to weakness and numbness, typically impacting the limbs. Additional prevalent aspects of the disorder encompass a visual impairment referred to as retinitis pigmentosa and ataxia, which involves an unstable walking pattern due to cerebellum damage in the brain. Symptoms generally manifest before the age of 20. The condition is progressive, interspersed with periods of remission.
Phytanic acid can be ingested through dietary means. As a result, individuals with Refsum’s disease are recommended to steer clear of any foods containing this compound. The primary origins of phytanic acid include meat derived from grass-fed animals (such as cows, sheep, and goats) as well as dairy products.