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Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder
Joint Authors
Lewis, Barry
Perera, Nimalie J.
Fietz, Michael
Sullivan, David R.
Tran, Huy A.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-09-01
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Refsum's Disease is an inherited metabolic disorder in which a metabolite of branched chain fatty acids accumulates due to lack of appropriate oxidative enzymes.
Patients have elevated plasma phytanic acid levels and high concentrations of phytanic acid in a variety of tissues leading to progressive tissue damage.
Besides retinal degeneration or retinal dystrophy associated with adult onset retinitis pigmentosa, additional symptoms include chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, anosmia, ichthyosis, as well as skeletal, cardiac, hepatic, and renal abnormalities.
Current management includes avoidance of dietary sources of branched chain fatty acids and regular plasmapheresis to prevent accumulation of these compounds to ameliorate progressive neurological deficits.
Two brothers with Refsum's disease who experienced progressive symptoms despite optimal diet and plasmapheresis were commenced on a novel therapy.
We report the effect of the intestinal lipase inhibitor, Orlistat, which led to significant reduction (P-value <0.001 on 2-sample unpaired t-test) of mean preplasmapheresis phytanic acid levels with retardation of the progression of most of their dermatological and neurological symptoms.
American Psychological Association (APA)
Perera, Nimalie J.& Lewis, Barry& Tran, Huy A.& Fietz, Michael& Sullivan, David R.. 2010. Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder. Journal of Obesity،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-475059
Modern Language Association (MLA)
Perera, Nimalie J.…[et al.]. Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder. Journal of Obesity No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-475059
American Medical Association (AMA)
Perera, Nimalie J.& Lewis, Barry& Tran, Huy A.& Fietz, Michael& Sullivan, David R.. Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder. Journal of Obesity. 2010. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-475059
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-475059