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Previous Volume 337:133-134 July 10, 1997 Number 2 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Heredopathia atactica polyneuritiformis was first identified as a distinct clinical entity by Refsum in the 1940s. Patients with this disorder usually present in the second decade of life or later with visual difficulties, distal limb weakness, and ataxia. The syndrome is characterized by atypical retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, and high concentrations of protein in cerebrospinal fluid.¹

Phytanic acid, an unusual branched-chain fatty acid (3,7,11,15-tetramethyl-hexadecanoic acid), accumulates in tissues and body fluids of patients with Refsum's disease.¹ The patients are unable to metabolize phytanic acid, which is exclusively derived from exogenous sources. Normally, phytanic acid undergoes . . . [Full Text of this Article]

References

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• Xu, F., Ng, V. Y., Kroetz, D. L., de Montellano, P. R. O. (2006). CYP4 Isoform Specificity in the {omega}-Hydroxylation of Phytanic Acid, a Potential Route to Elimination of the Causative Agent of Refsum's Disease. J. Pharmacol. Exp. Ther. 318: 835-839 [Abstract] [Full Text]  
• Searls, T., Butler, D., Chien, W., Mukherji, M., Lloyd, M. D., Schofield, C. J. (2005). Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands. J. Lipid Res. 46: 1660-1667 [Abstract] [Full Text]  
• Komen, J. C., Duran, M., Wanders, R. J. A. (2004). {omega}-Hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. J. Lipid Res. 45: 1341-1346 [Abstract] [Full Text]  
• Choksi, V., Hoeffner, E., Karaarslan, E., Yalcinkaya, C., Cakirer, S. (2003). Infantile Refsum Disease: Case Report. Am. J. Neuroradiol. 24: 2082-2084 [Abstract] [Full Text]  
• McLean, B N, Allen, J, Ferdinandusse, S, Wanders, R J A (2002). A new defect of peroxisomal function involving pristanic acid: a case report. J. Neurol. Neurosurg. Psychiatry 72: 396-399 [Abstract] [Full Text]  
• Chen, C., Wang, Q., Fang, X., Xu, Q., Chi, C., Gu, J. (2001). Roles of Phytanoyl-CoA alpha -Hydroxylase in Mediating the Expression of Human Coagulation Factor VIII. J. Biol. Chem. 276: 46340-46346 [Abstract] [Full Text]  
• Wills, A.J., Manning, N.J., Reilly, M.M. (2001). Refsum's disease. QJM 94: 403-406 [Full Text]  
• Jansen, G. A., Hogenhout, E. M., Ferdinandusse, S., Waterham, H. R., Ofman, R., Jakobs, C., Skjeldal, O. H., Wanders, R. J.A. (2000). Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet 9: 1195-1200 [Abstract] [Full Text]  
• Croes, K., Foulon, V., Casteels, M., Van Veldhoven, P. P., Mannaerts, G. P. (2000). Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-CoAs and requirement for GTP or ATP and Mg2+ in addition to its known hydroxylation cofactors. J. Lipid Res. 41: 629-636 [Abstract] [Full Text]  
• Jansen, G. A., Ofman, R., Denis, S., Ferdinandusse, S., Hogenhout, E. M., Jakobs, C., Wanders, R. J. A. (1999). Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid {alpha}-oxidation. J. Lipid Res. 40: 2244-2254 [Abstract] [Full Text]  
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