Phytanic acid oxidase deficiency
Overview
Phytanic acid oxidase deficiency (medical condition): A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
Symptoms
Some of the symptoms of Phytanic acid oxidase deficiency incude: * Vision impairments * Retinitis pigmentosa * Peripheral neuropathy * Ataxia * Impaired hearing
Treatment
Treatments for Phytanic acid oxidase deficiency (Refsum Disease) include: * Low-phytanic acid diet * Plasmapheresis