Medical Dictionary

Refsum's disease

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noun Ref·sum's disease \ˈref-səmz-\

Medical Definition of Refsum's disease

  1. :  an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation

Biographical Note for refsum's disease

Refsum

\ˈref-su̇m\,

Sigvald Bernhard

(1907–1991), Norwegian physician. Refsum served as a professor of neurology and as a specialist in neurology and psychiatry at a succession of Norwegian hospitals. In addition to identifying Refsum's disease, he did research on the genetic aspects of neurology.


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