Phytanic Acid Storage Disease, also known as Refsum Disease, is a rare inherited metabolic disorder characterized by the accumulation of a compound called phytanic acid in various tissues of the body. This condition is caused by a deficiency of the enzyme phytanoyl-CoA hydroxylase, which is responsible for breaking down phytanic acid.
Phytanic acid is a type of fatty acid found in certain foods such as dairy products, beef, and fish. In individuals with Phytanic Acid Storage Disease, the inability to properly metabolize this fatty acid leads to its excessive build-up in tissues such as the liver, blood, and nervous system.
The accumulation of phytanic acid in these tissues can cause a range of symptoms including impaired vision due to retinal degeneration, hearing loss, muscle weakness, impaired coordination, and abnormalities in the bones, especially the hands and feet. Additionally, individuals with this condition may experience peripheral neuropathy, heart problems, and abnormal facial features.
Phytanic Acid Storage Disease is typically diagnosed through a combination of clinical examination, assessment of symptoms, and specialized laboratory tests that measure the levels of phytanic acid in the blood and tissues. Treatment focuses on managing symptoms and involves dietary interventions aimed at reducing the intake of phytanic acid-rich foods. Additionally, medications may be prescribed to help control symptoms and prevent complications.
Overall, Phytanic Acid Storage Disease is a complex disorder that requires ongoing medical management and support.
