Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine |
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| Authors: | R. A. Roesel J. E. Carroll W. B. Rizzo T. van der Zalm D. A. Hahn |
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| Affiliation: | (1) Department of Cell and Molecular Biology, Medical College of Georgia, 30912 Augusta, GA, USA;(2) Department of Neurology, Medical College of Georgia, 30912 Augusta, GA, USA;(3) Department of Pediatrics, Medical College of Georgia, 30912 Augusta, GA, USA;(4) Department of Radiology, Medical College of Georgia, 30912 Augusta, GA, USA;(5) Gracewood State School and Hospital, 30812-1299 Gracewood, GA, USA;(6) Departments of Pediatrics and Human Genetics, Medical College of Virginia, 23298-0259 Richmond, VA, USA |
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| Abstract: | 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.Dr Roesel died on 21 August, 1989. |
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