Lynne A. Wolfe is a Nurse Practitioner who cares for children and families affected with inborn errors of metabolism (IEM) including inherited disorders of glycosylation. She is a co-investigator in the NIH Undiagnosed Diseases program targeting the discovery of new IEMs and the further characterization of rare presentations of previously identified disorders. She is a member of the faculty for the North American Metabolic Academy (NAMA) established by the Society of Inherited Metabolic Disorders and instructs in the areas of glycosylation disorders among others.
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation†
Version of Record online: 11 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis
Volume 160C, Issue 4, pages 322–328, 15 November 2012
How to Cite
Wolfe, L. A., Morava, E., He, M., Vockley, J. and Gibson, K. M. (2012), Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am. J. Med. Genet., 160C: 322–328. doi: 10.1002/ajmg.c.31345
How to cite this article: Wolfe LA, Morava E, He M, Vockley J, Gibson KM. 2012. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am J Med Genet Part C Semin Med Genet 160C: 322–328.
- Issue online: 22 OCT 2012
- Version of Record online: 11 OCT 2012
- retinitis pigmentosa;
- muscular dystrophy;
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.