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Refsum Syndrome

definition

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.

synonyms

Refsum Syndrome, Heredopathia Atactica Polyneuritiformis

UMLS

Disease, Refsum's, Hered motor/sens neuropathy IV, Hereditary motor and sensory neuropathy type IV, Hereditary sensory-motor neuropathy, type 4, Hereditary sensory-motor neuropathy, type IV, Hereditary Type IV Motor and Sensory Neuropathy, Heredoatax atactica polyneurit, Heredoatax hemeralop polyneuri, Heredoataxia hemeralopica polyneuritiformis, Heredoataxic atactica polyneuritiformis, Heredoataxic hemeralopica polyneuritiformis, Heredopathia atactica polyneur, Heredopathia Atactica Polyneuritiformis, HMSN Type IV, Neuropathy, Hereditary Motor and Sensory Type IV, NEUROPATHY, HYPERTROPHIC OF REFSUM, Neuropathy, hypertrophic, Refsum, Phytanic acid excess syndrome, Phytanic acid storage disease, Polyneuritiformis, Heredopathia Atactica, Refsum - Thiebaut disease, Refsum Disease, Refsum syndrome, Refsums Disease, Refsum's Disease, Refsums Syndrome, Refsum's Syndrome, Refsum-Thiebaut disease, Syndrome, Refsum's

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