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Journal of Obesity
Volume 2011 (2011), Article ID 482021, 5 pages
http://dx.doi.org/10.1155/2011/482021
Case Report

Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder

1Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Sydney, Camperdown, NSW 2050, Australia
2Department of Medicine, University of Sydney, NSW 2006, Australia
3Department of Biochemistry, John Hunter Hospital, Newcastle, NSW 2305, Australia
4National Referral Laboratory for Lysosomal, Peroxisomal and Related Genetic Disorders, SA Pathology at The Women's and Children's Hospital, North Adelaide, SA 5006, Australia
5School of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA 5005, Australia

Received 12 May 2010; Accepted 12 July 2010

Academic Editor: S. B. Heymsfield

Copyright © 2011 Nimalie J. Perera et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. J. Wills, N. J. Manning, and M. M. Reilly, “Refsum's disease,” Monthly Journal of the Association of Physicians, vol. 94, no. 8, pp. 403–406, 2001. View at Scopus
  2. A. S. Wierzbicki, M. D. Lloyd, C. J. Schofield, M. D. Feher, and F. B. Gibberd, “Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation,” Journal of Neurochemistry, vol. 80, no. 5, pp. 727–735, 2002. View at Publisher · View at Google Scholar · View at Scopus
  3. P. Schönfeld and G. Reiser, “Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria,” The Journal of Biological Chemistry, vol. 281, no. 11, pp. 7136–7142, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. M. A. McDonough, K. L. Kavanagh, D. Butler, T. Searls, U. Oppermann, and C. J. Schofield, “Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease,” The Journal of Biological Chemistry, vol. 280, no. 49, pp. 41101–41110, 2005. View at Publisher · View at Google Scholar · View at Scopus
  5. D. M. Van Den Brink, P. Brites, J. Haasjes et al., “Identification of PEX7 as the second gene involved in Refsum disease,” American Journal of Human Genetics, vol. 72, no. 2, pp. 471–477, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. G. Reiser, P. Schonfeld, and S. Kahlert, “Mechanism of toxicity of branched chain fatty acid phytanic acid , a marker of Refsum’s Disease, in astrocytes involved mitochondrial impairment,” International Journal of Developmental Neuroscience, vol. 24, no. 2-3, pp. 7136–7142, 2006.
  7. S. Idel, P. Ellinghaus, C. Wolfrum et al., “Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells,” The Journal of Biological Chemistry, vol. 277, no. 51, pp. 49319–49325, 2002. View at Publisher · View at Google Scholar · View at Scopus
  8. K. Ruther, “Adult Refsum’s disease, a retinal dystrophy with therapeutic options, abstract,” Ophthalmologe, vol. 102, no. 8, pp. 772–777, 2005.
  9. B. C. Ramsay, K. Meeran, D. Woodrow et al., “Cutaneous aspects of Refsum's disease,” Journal of the Royal Society of Medicine, vol. 84, no. 9, pp. 559–560, 1991. View at Scopus
  10. T. C. Britton and F. B. Gibberd, “A family with heredopathia atactica polyneuritiformis (Refsum's disease),” Journal of the Royal Society of Medicine, vol. 81, no. 10, pp. 602–603, 1988. View at Scopus
  11. J. P. R. Dick, K. Meeran, F. B. Gibbert, and F. C. Rose, “Hypokalaemia in acute Refsum's disease,” Journal of the Royal Society of Medicine, vol. 86, no. 3, pp. 171–172, 1993.