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Phytanic acid storage disease (Refsum's

Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management

✍ Robert Weinstein 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 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