Medical Dictionary: Infantile Phytanic Acid Storage Disease

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Infantile Phytanic Acid Storage Disease: Another name for Infantile Refsum Disease.
Infantile Phytanic Acid Storage Disease (condition): Genetic disease affecting nerve and muscle control.

Infantile Phytanic Acid Storage Disease: Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. 1

More information on medical condition: Infantile Refsum Disease:

1. excerpt from NINDS Infantile Refsum Disease Information Page: NINDS

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