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Keywords:

  • ichthyosis;
  • retinitis pigmentosa;
  • muscular dystrophy;
  • dolichol;
  • glycosylation;
  • mannosylation;
  • isoprene;
  • isoprenoids;
  • cholesterol

Abstract

Dolichols, polyisoprene alcohols derived from the mevalonate pathway of cholesterol synthesis, serve as carriers of glycan precursors for the formation of oligosaccharides important in protein glycosylation. Seven autosomal-recessively inherited disorders in the metabolism (synthesis, utilization, recycling) of the dolichols have recently been described, and all are associated with decreased lipid-linked oligosaccharides leading to underglycosylated proteins or lipids which facilitate their detection in the diagnostic laboratory. Multisystem pathology encompasses developmental delays and eye, heart, skin and muscle abnormalities; outcomes range from death in infancy to mild, late-onset disease. © 2012 Wiley Periodicals, Inc.