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.
|Original language||English (US)|
|Number of pages||7|
|Journal||American Journal of Medical Genetics, Part C: Seminars in Medical Genetics|
|State||Published - Nov 15 2012|
- Muscular dystrophy
- Retinitis pigmentosa
ASJC Scopus subject areas