Refsum's disease

Refsum's disease definition - medical

Ref·sum's disease (rĕfˈsəmz)

noun
A rare inherited metabolic disorder characterized by a buildup of phytanic acid in tissues and a manifestation of such conditions as retinitis pigmentosa, polyneuritis, deafness, and nystagmus.

The American Heritage® Medical Dictionary Copyright © 2009 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

Comments
Improve this definition.
Do you have more to add? Share your linguistic knowledge or observation.
/Register to save your comments.