Summary
A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.
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Dr Roesel died on 21 August, 1989.
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Roesel, R.A., Carroll, J.E., Rizzo, W.B. et al. Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine. J Inherit Metab Dis 14, 876–880 (1991). https://doi.org/10.1007/BF01800466
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DOI: https://doi.org/10.1007/BF01800466