Overview

Refsum's disease


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An inherited disorder of lipid metabolism resulting in abnormal accumulation of phytanic acid (a fatty acid) in body tissues. This results in a peripheral neuropathy affecting the sensory and motor nerves, diminishing vision due to retinitis pigmentosa, and unsteadiness (ataxia) caused by damage to the cerebellum. S. Refsum (20th century), Norwegian physician

Subjects: Chemistry — Medicine and Health.


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