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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.
AuthorsD Leppert, U Schanz, J Burger, J Gmür, N Blau, W Waespe
JournalEuropean archives of psychiatry and clinical neuroscience (Eur Arch Psychiatry Clin Neurosci) Vol. 241 Issue 2 Pg. 82-4 ( 1991) ISSN: 0940-1334 [Print] Germany
PMID1718440 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Isoenzymes
  • Phytic Acid
  • L-Lactate Dehydrogenase
  • Creatine Kinase
  • Fructose-Bisphosphate Aldolase
Topics
  • Adult
  • Creatine Kinase (blood)
  • Follow-Up Studies
  • Fructose-Bisphosphate Aldolase (blood)
  • Humans
  • Isoenzymes
  • L-Lactate Dehydrogenase (blood)
  • Long-Term Care
  • Male
  • Neurologic Examination
  • Phytic Acid (blood)
  • Plasma Exchange (methods)
  • Refsum Disease (physiopathology, therapy)
  • Synaptic Transmission (physiology)

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