Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
作者信息
Roesel R A, Carroll J E, Rizzo W B, van der Zalm T, Hahn D A
机构信息
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912.
出版信息
J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.
PMID:1779646
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.
摘要
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