title: Long-term plasma exchange in a case of Refsum's disease.
abstract: Refsum's disease (Heredopathia atactica polyneuritiformis) is caused by accumulation of phytanic acid in all body tissues due to an inherited failure of alpha-oxidation of branched chain fatty acids. Plasmapheresis has been reported to be beneficial by removal of phytanic acid from the blood. We describe a patient with Refsum's disease in whom long-term plasmapheresis did not improve clinical, biochemical or electrophysiological parameters.
authors.affiliation: Department of Neurology, University Hospital, Zurich, Switzerland.
authors.forename: D
authors.initials: D
authors.lastname: Leppert
authors.forename: U
authors.initials: U
authors.lastname: Schanz
authors.forename: J
authors.initials: J
authors.lastname: Burger
authors.forename: J
authors.initials: J
authors.lastname: Gmür
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: W
authors.initials: W
authors.lastname: Waespe
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D005500:Follow-Up Studies; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008134:Long-Term Care; D008297:Male; D009460:Neurologic Examination; D010833:Phytic Acid / Q000097:blood*; D010951:Plasma Exchange / Q000379:methods*; D012035:Refsum Disease / Q000503:physiopathology / Q000628:therapy*; D009435:Synaptic Transmission / Q000502:physiology
chemical_list: D007527:Isoenzymes; D010833:Phytic Acid; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase