Treatment of infantile phytanic acid storage disease: clinical,biochemical and ultrastructural findings in two children treated for 2 years |
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Authors: | E. F. Robertson A. Poulos P. Sharp J. Manson G. Wise A. Jaunzems R. Carter |
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Affiliation: | (1) Department of Chemical Pathology, Adelaide Children's Hospital, King William Road, 5006 North Adelaide, Australia;(2) Department of Neurology, Adelaide Children's Hospital, King William Road, 5006 North Adelaide, Australia;(3) Department of Histopathology, Adelaide Children's Hospital, King William Road, 5006 North Adelaide, Australia;(4) Department of Neurology, The Prince of Wales Children's Hospital, High Street, 2031 Randwick, New South Wales, Australia |
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Abstract: | Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.Abbreviations VLCFA very long chain fatty acids - ALD adrenoleukodystrophy |
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Keywords: | Infantile Refsum disease Phytanic acid Dietary treatment Peroxisomes Ultrastructure |
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