Refsum's syndrome


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Refsum's syndrome

[ref′soo͡mz]
Etymology: Sigvald Refsum, Norwegian physician, 1907-1991
a rare hereditary disorder of lipid metabolism in which phytanic acid cannot be broken down. It is characterized by ataxia, abnormalities of the bones and skin, peripheral neuropathy, cardiomyopathy, deafness, and retinitis pigmentosa. Foods containing phytanic acid must be avoided to prevent progressive deterioration. Also called phytanic acid storage disease.