Phytanic acid storage disease (Refsum's
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Robert Weinstein
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Article
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1999
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John Wiley and Sons
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English
โ 26 KB
๐ 2 views
Phytanic acid storage disease (known also as Refsum's Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths, and in organs including the liver an