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Refsum's disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Refsum's disease is a rare autosomal recessive disorder which presents as a sensorimotor polyneuropathy during the second decade or later.

In this condition lipid metabolism is abnormal. This abnormality results in excessive phytanic acid in fat, the kidneys, the liver and nerves. Characteristic of Refsum's disease is a reduction in plasmalogens (a type of phospholipid) and increased plasma levels of phytanic acid and pipecolic acid.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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