Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
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.
Undiagnosed Diseases Program, National Institutes of Health, 10 Center DR, MSC 1205, RM# 3-2551, Bethesda, MD 20892, USA. lynne.wolfe@nih.gov
Lynne A
LA
Wolfe
Eva
E
Morava
Miao
M
He
Jerry
J
Vockley
K Michael
KM
Gibson
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000235:genetics / Q000378:metabolism / Q000401:mortality / Q000503:physiopathology; D004286:Dolichols / Q000378:metabolism*; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013261:Sterols / Q000378:metabolism
D004286:Dolichols; D013261:Sterols