Refsum diseaseRefsum disease
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Rarity: Common
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What Wikipedia says
Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
Excerpt from the Wikipedia article “Refsum disease”, under the CC BY-SA 4.0 license. Read the article on Wikipedia
Image: Hari Jayaram, CC BY 2.0, via Wikimedia Commons.
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