Refsum disease
Definition
Refsum disease is an inherited disorder in which the enzyme responsible for processing phytanic acid is defective. Accumulation of phytanic acid in the tissues and the blood leads to damage of the brain, nerves, eyes, skin, and bones.
Description
Refsum disease was first characterized by the Norwegian physician, Sigvald Refsum, in the 1940s and is known by other names, such as classical Refsum disease, adult Refsum disease, phytanic acid alpha-hydroxylase deficiency, phytanic acid storage disease, hypertrophic neuropathy of Refsum, heredopathia atactica polyneuritiformis, and hereditary motor and sensory neuropathy IV. Refsum disease should not be confused with infantile Refsum disease,...
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