Refsum disease is a rare, autosomal recessive metabolic disorder characterized by the accumulation of phytanic acid in blood and tissues, causing damage to the nervous system, eyes, ears, and skin. Common symptoms include vision loss (retinitis pigmentosa), hearing loss, ataxia, anosmia (loss of smell), and ichthyosis. Treatment focuses on a strict low-phytanic acid diet to prevent further accumulation.

Key Aspects of Refsum Disease:

• Causes: The disease results from mutations in genes (usually PHYH or sometimes PEX7) that prevent the breakdown of phytanic acid, a fatty acid obtained from diet.
• Symptoms: Symptoms often appear in late childhood or adolescence, including vision loss (retinitis pigmentosa), unsteady gait (ataxia), loss of smell (anosmia), peripheral neuropathy (numbness/weakness), hearing loss, and scaly skin.
• Diagnosis: Diagnosed by detecting high levels of phytanic acid in blood or serum, often during tests for neurological symptoms or vision issues.
• Treatment: A strict diet eliminating dairy, beef, lamb, and certain fish (sources of phytanic acid) is essential. Plasmapheresis (plasma exchange) may be used to quickly remove accumulated acid from the blood.
• Prognosis: With early and strict dietary management, many symptoms can be managed or improved, although some, like hearing loss or established vision impairment, may be permanent.
• Distinction: It is different from Infantile Refsum disease, which is a more severe peroxisomal biogenesis disorder (Zellweger spectrum).

Clinical Features

Management