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Refsum Syndrome


Disease caused by a congenital enzyme abnormality which is transmitted as an autosomal-recessive trait. Phytanic acid oxidase deficiency leads to accumulation of phytanic acid in serum and tissue with progressive neurosensorial deterioration. The condition is marked by pathological changes in the skin, eyes and nerves. The skin is affected by a mild ichthyosis. The neurological changes include cerebellar ataxia with progressive polyneuropathy, sensorineural hearing loss and retinitis pigmentosa. Night blindness and other visual disorders associated with retinitis pigmentosa occur.


Refsum Syndrome, Heredopathia Atactica Polyneuritiformis


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