Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
- 11 October 2012
- journal article
- review article
- Published by Wiley in Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics
- Vol. 160C (4), 322-328
- https://doi.org/10.1002/ajmg.c.31345
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.Keywords
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