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Dyggve‐Melchior‐Clausen syndrome with increased pipecolic acid in plasma and urine
Author(s) -
Roesel R. A.,
Carroll J. E.,
Rizzo W. B.,
der Zalm T.,
Hahn D. A.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800466
Subject(s) - pipecolic acid , phytanic acid , peroxisome , urine , peroxisomal disorder , endocrinology , medicine , chemistry , plasmalogen , metabolism , biochemistry , amino acid , membrane , receptor , phospholipid
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.