Phytanic Acid Storage Disease

Essential
It is feasible that the major title of the record Refsum Disease is not the name you got. Kindly inspect the basic synonyms providing to locate the alternative name(s) as well as condition community(s) covered by this record.

Basic 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 Type)

Condition Subdivisions

• None

General Discussion
Refsum condition is just one of a household of congenital diseases referred to as the leukodystrophies where, therefore of the interruption of lipid metabolic process, the myelin sheath that shields as well as safeguards the nerves of the mind neglects to expand. It is acquired as an autosomal recessive characteristic. It is identified by dynamic loss of vision (retinitis pigmentosa); degenerative nerve condition (outer neuropathy); failing of muscular tissue sychronisation (ataxia); and also completely dry, rugged, flaky skin (ichthyosis).

The problem is dued to the buildup of a certain fat (phytanic acid) in blood plasma and also cells. Since of a breakdown of the genetics that makes the enzyme that damages down (metabolizes) this acid, this takes place. The vital enzyme is missing.

Therapy with a diet regimen reduced in foods which contain phytanic acid could be valuable. Our physical bodies could not make phytanic acid. Rather, it is presented to the physical body in specific foods, consisting of milk items, beef, lamb and also some fish and shellfish.