Medical Dictionary
Main Entry:
Ref·sum's disease Pronunciation:
'ref-s&mz- Function:
noun : an autosomal recessive lipidosis characterized by faulty metabolism ofphytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation
Refásum /'ref-sum,/ Sigvald Bernhard(b 1907), 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 toidentifying Refsum's disease, he did research on the genetic aspects of neurology.
