DISEASES

Disease-gene associations mined from literature

Human genes for Refsum disease

Refsum disease [DOID:10582]

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).

Synonyms:  Refsum disease,  DOID:10582,  Refsum disorder,  Refsum syndrome,  HMSN type IV ...

Linkouts:  OMIM #1 #2 #3