Refsum’s disease
•Defect in alpha oxidation of phytanic acid (phytanic acid oxidase)(phytanoyl CoA hydroxylase) in the peroxisome.
•The manifestation of classic Refsum’s disease include impaired vision from retinitis pigmentosa, icthyosis, peripheral neuropathy, ataxia, and ocaasionally cardiac arrhythmias.
•Classic Refsum’s disease often does not manifest until young adulthood,but visual disturbances such as night blindness,icthyosis,and peripheral neuropathy may already be present in childhood and adolescence.
•Restrict dietary dairy products and green leafy vegetables