Term Name:	Refsum disease
Synonyms:	adult Refsum disease, classic Refsum disease, Heredopathia atactica polyneuritiformis, HMSN type IV, HSMN IV, phytanic acid oxidase deficiency, Refsum's disease
Definition:	A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
Ontology:	Human Disease [DOID:10582]   ( DOID:10582 )