Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

R. A. Roesel, J. E. Carroll, W. B. Rizzo, T. van der Zalm, D. A. Hahn

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)876-880
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume14
Issue number6
DOIs
Publication statusPublished - Nov 1 1991

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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