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  • 1
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Phytanic acid ; Dietary treatment ; Peroxisomes ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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. C26∶C22 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 C26∶C22 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.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An isotope dilution mass spectrometric assay for plasmacis-dec-4-enoic acid is described. It is quicker, more reliable and more accurate than previous methods. It confirmed previous findings thatcis-dec-4-enoic acid is a reliable indicator for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). The plasmacis-dec-4-enoic acid levels of both asymptomatic and symptomatic MCAD patients (3.5–71 µmol/L) are demonstrably higher than those of normal children (0.2–1.7 µmol/L), MCAD heterozygotes (0.1–1.5 µmol/L), those with other fatty acid oxidation defects (0.2–2.2 µmol/L) or those receiving high doses of valproic acid (0.2–0.4 µmol/L).
    Type of Medium: Electronic Resource
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