Refsum disease is a hereditary disease transmitted by autosomal recessive inheritance. Patients with this disease exhibit various manifestations of the disease due to defective oxidation of Phytanic acid. The chief sources of Phytanic acid are dairy, lamb, fish and beef.
Refsum disease manifests as sensorineuronal deafness, cerebellar ataxia and anosmia.
Other common manifestations are Retinitis pigmentosa, icthyosis, syndactyly, cardiomyopathy and cataract.
Abnormally high plasma levels of Phytanic acid is plasma and urine is diagnostic.
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