Abstract
The long-term treatment of Refsum’s disease (McKusick 26650) overwhelmingly relies on dietary management with a low phytanate and phytol intake. Although this diet successfully depletes the accumulated phytanate in patients with Refsum’s disease, the clinical improvement is incomplete (Steinberg et al., 1970; Sahgal and Olsen, 1975; Gibberd et al., 1979). This raises the question as to whether the persisting clinical problems may be caused by some other undefined and untreated pathology rather than by the direct accumulation of phytanate and its incorporation into myelin (Steinberg et al., 1967).
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Krywawych, S., Jackson, M.J., Forte, C., Garrod, P.J., Walker, D.K., Brenton, D.P. (1985). The Effect of Phytol upon Skeletal Muscle Damage in Vitamin E-Deficient Animals. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_27
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DOI: https://doi.org/10.1007/978-94-011-8019-1_27
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