Refsum's Disease is an autosomal recessive (Chromosome 10) neurological disease that results in the malformation of myelin sheaths around nerve cells. Refsum's Disease is caused by faulty enzymes during the alpha-oxidation of phytanic acid resulting in buildup of phytanic acid and its unsaturated fatty acid derivatives in the plasma and tissues. Patients with Refsum's Disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet.

Phytol (from chlorophyll in plant foods) ---> Phytanic Acid -x-> pristanic acid ---> propionyl CoA

Also called: Refsum-Thiébaut disease, Refsum-Thiébaut-Klenk-Kahlke disease

Refsum-Syndrom | Inborn errors of metabolism