Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid-A case report
作者： Gisella Terre'Blanche , Mietha M van der Walt , Jacobus J Bergh , Lodewyk J Mienie
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摘要: This is a case report of adrenomyeloneuropathy (AMN), the adult variant adrenoleukodystryphy (ALD). The diagnoses in patient, aged 34, was confirmed via increased serum very long chain fatty acid concentration (VLCFA). Treatment started with cholesterol lowering drug, atorvastatin, followed by add-on therapy Lorenzo's oil (LO) and finally supplementation docosahexaenoic (DHA). magnetic resonance imaging (MRI) scan AMN patient before DHA treatment, already showed abnormal white matter brain. Although MRI no neurological improvement after 6 months selective progression demyelination detected patient. Contrary to what expected, LO failed sustain or normalize VLCFA levels improve clinical symptoms. It however, shown that addition LO, both plasma red blood cells (RBC). Additionally, study evidence elongase activity elongation eicosapentaenoic (EPA) docosapentaenoic (DPA) might have been significantly compromised, due levels.
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T. Yamada, N. Shinnoh, T. Taniwaki, Y. Ohyagi, H. Asahara, I. Horiuchi, J. Kira, Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice Journal of Inherited Metabolic Disease. ,vol. 23, pp. 607- 614 ,(2000) , 10.1023/A:1005634130286
Ann B. Moser, David S. Jones, Gerald V. Raymond, Hugo W. Moser, Plasma and red blood cell fatty acids in peroxisomal disorders Neurochemical Research. ,vol. 24, pp. 187- 197 ,(1999) , 10.1023/A:1022549618333
HugoW. Moser, Lorenzo's oil. The Lancet. ,vol. 341, pp. 544- ,(1993) , 10.1016/0140-6736(93)90295-R
Inderjit Singh, Aurora Pujol, Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis Brain Pathology. ,vol. 20, pp. 838- 844 ,(2009) , 10.1111/J.1750-3639.2010.00392.X
Hugo W Moser, None, Therapy of X-linked adrenoleukodystrophy Neurorx. ,vol. 3, pp. 246- 253 ,(2006) , 10.1016/J.NURX.2006.01.004
Isabelle Weinhofer, Sonja Forss-Petter, Markus Kunze, Mihaela Žigman, Johannes Berger, X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. FEBS Letters. ,vol. 579, pp. 5512- 5516 ,(2005) , 10.1016/J.FEBSLET.2005.09.014
Cornelius M. Smuts, Hendrik Y. Tichelaar, Simple thin-layer chromatographic purification procedure for the determination of cholesterol ester fatty acid compositions. Journal of Chromatography B: Biomedical Sciences and Applications. ,vol. 564, pp. 272- 277 ,(1991) , 10.1016/0378-4347(91)80090-Y
B M van Geel, J Assies, E B Haverkort, J H T M Koelman, B Verbeeten, R J A Wanders, P G Barth, Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil” Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 67, pp. 290- 299 ,(1999) , 10.1136/JNNP.67.3.290
Stephan Kemp, Fredoen Valianpour, Simone Denis, Rob Ofman, Robert-Jan Sanders, Petra Mooyer, Peter G. Barth, Ronald J.A. Wanders, Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy Molecular Genetics and Metabolism. ,vol. 84, pp. 144- 151 ,(2005) , 10.1016/J.YMGME.2004.09.015
Patrick Aubourg, Catherine Adamsbaum, Marie-Claude Lavallard-Rousseau, Francis Rocchiccioli, Nathalie Cartier, Isabelle Jambaque, Christine Jakobezak, Anne Lemaitre, Francois Boureau, Claude Wolf, Pierre-Francois Bougneres, A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy The New England Journal of Medicine. ,vol. 329, pp. 745- 752 ,(1993) , 10.1056/NEJM199309093291101