Tags: Disease.
Refsum disease also known as classic or adult Refsum disease heredopathia atactica polyneuritiformis phytanic acid oxidase deficiency and phytanic acid storage disease is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
