Refsum disease, also called classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase lack and phytanic acid storage disorder, is an autosomal recessive neurological disorder that leads to the over-accumulation of phytanic acid in tissues and cells. It’s but one of many ailments named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease normally is teenage onset and is characterized by above average levels of phytanic acid. People obtain the required phytanic acid chiefly through diet. It’s still unclear what role phytanic acid performs physiologically in people, but has been proven to modulate fatty acid metabolism in the liver of mice.
Cause of Refsum Disease
Refsum disease is a peroxisomal disease resulting from the diminished alpha-oxidation of branched-chain fatty acids leading to a buildup of phytanic acid and its derivatives at the cells and plasma. This could possibly be because of deficiencies of phytanoyl-CoA hydroxylase or peroxin-7 action. Generally, Refsum disease is caused by PHYHmutations.
PEX7 gene mutations can disrupt the peroxisomal transfer of proteins because of this gene codes for its peroxin 7 receptor receptor. All these mutations at the PEX7 gene normally result in rhizomelic chondrodysplasia punctata type 1- that impairs the development of several areas of the human body. Refsum disease is inherited in an autosomal recessive pattern, which means that it takes the two copies of this mutation to inherit the illness.
Treatment
Since phytanic acid isn’t produced from the human body, people who have Refsum disease are generally put to a phytanic acid-restricted diet plan and prevent the usage of fats out of ruminant animals and certain fish, such as tuna, cod, and haddock. Grass feeding animals and their milk can also be avoided. Recent studies have proven that CYP4 isoform enzymes might help decrease the over-accumulation of phytanic acid in vivo. Plasmapheresis is just another medical intervention used to treat individuals. This entails the use of blood to make sure there’s not any accumulation of phytanic acid.
