- Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acidoxidase deficiency and phytanic acid storage disease
- It is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues.
- Adolescent onset and is diagnosed by above average levels of phytanic acid.
- Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues.
- This may be due to deficiencies of phytanoyl-CoA hydroxylase or peroxin-7 activity. In general, Refsum disease is caused by PHYH mutations.
- Neurologic damage, cerebellar degeneration, and peripheral neuropathy.
- Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation or remission occur.
- Symptoms also include ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including retinitis pigmentosa, cataracts, and night blindness.
- In 80% of patients diagnosed with Refsum disease, sensorineural hearing loss has been reported.
- Since phytanic acid is not produced in the human body, individuals with Refsum disease are commonly placed on a phytanic acid-restricted diet and avoid the consumption of fats from ruminant animals and certain fish, such as tuna, cod, and haddock.
- Grass feeding animals and their milk are also avoided.
- CYP4isoform enzymes could help reduce the over-accumulation of phytanic acid in vivo.
- Plasmapheresis is another medical intervention used to treat patients.
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