Refsum’s Disease

Wikis > Neurology > Peripheral Neuropathy > Refsum’s Disease

Refsum’s Disease (Heredopathia atactica polyneuritiformis):
Autosomal recessive; multisystem illness – polyneuropathy, eye disease, ataxia, deafness, cardiomyopathy, ichthyosis. Due to accumulation of phytanic acid in tissues due to failure of alpha-oxidation.
Treatment – diet free of phytanic acid (eg fish oils; diary products)

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