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

J Inherit Metab Dis. 1991;14(6):876-80. doi: 10.1007/BF01800466.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Diseases, Developmental / metabolism*
  • Child
  • Dwarfism / metabolism*
  • Fatty Acids / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Intellectual Disability / metabolism*
  • Male
  • Microbodies / metabolism*
  • Phytanic Acid / blood
  • Pipecolic Acids / blood
  • Pipecolic Acids / metabolism*
  • Pipecolic Acids / urine
  • Plasmalogens / biosynthesis
  • Syndrome

Substances

  • Fatty Acids
  • Pipecolic Acids
  • Plasmalogens
  • Phytanic Acid
  • pipecolic acid