Home > Encyclopedia of Neurological Disorders > Refsum Disease

Definition

Refsum disease is one of several inherited disorders that are collectively called leukodystrophies. Refsum disease results from defects in the formation of the myelin sheath, a fat covering that protects the nerves in the brain and spinal cord.

Description

Refsum disease has also been called Refsum-Thiébaut disease and Refsum-Thiébaut-Klenk-Kahlke disease since Drs. W. Kahlke, E. Klenk, M.F. Thiébaut, and Sigvald Bernhard Refsum all contributed to the identification and clinical characterization of the disorder. The Norwegian neurologist, Sigvald Refsum first described the disorder in 1946.

Refsum disease is a rare genetic disorder that affects the ability of the body to breakdown fats, a process called fatty acid oxidation. As a result, a metabolite called phytanic acid accumulates in the blood as well as...