Refsum Disease

Essential
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Synonyms

• Refsum Disease
• Phytanic Acid Storage Disease
• Hypertrophic Neuropathy of Refsum
• Heredopathia Atactica Polyneuritiformis
• DOC 11 (Phytanic Acid Type)
• Problem of Cornification 11 (Phytanic Acid Kind)

Condition Class

• None

General Discussion
Refsum disease is one of a household of congenital diseases known as the leukodystrophies where, as a consequence of the interruption of lipid metabolic process, the myelin sheath that shields and also shields the nerves of the brain neglects to grow. It is inherited as an autosomal recessive quality. It is characterized by progressive loss of vision (retinitis pigmentosa); degenerative nerve disease (outer neuropathy); failure of muscular tissue coordination (ataxia); as well as completely dry, rough, flaky skin (ichthyosis).

The problem is caused by the build-up of a particular fat (phytanic acid) in blood plasma and also cells. This happens as a result of a malfunction of the gene that makes the enzyme that damages down (metabolizes) this acid. The essential enzyme is missing.

Treatment with a diet reduced in foods that contain phytanic acid can be advantageous. Our bodies could not make phytanic acid. Rather, it is introduced to the physical body in certain foods, including dairy items, beef, lamb as well as some seafood.