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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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
StatePublished - Nov 1 1991

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Phytanic Acid
Plasmalogens
Fatty Acids
Urine
pipecolic acid
Dyggve-Melchior-Clausen syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine. / Roesel, R. A.; Carroll, J. E.; Rizzo, W. B.; van der Zalm, T.; Hahn, D. A.

In: Journal of Inherited Metabolic Disease, Vol. 14, No. 6, 01.11.1991, p. 876-880.

Research output: Contribution to journalArticle

Roesel, R. A. ; Carroll, J. E. ; Rizzo, W. B. ; van der Zalm, T. ; Hahn, D. A. / Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine. In: Journal of Inherited Metabolic Disease. 1991 ; Vol. 14, No. 6. pp. 876-880.
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