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Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation


  • Lynne A. Wolfe,

    Corresponding author
    • Undiagnosed Diseases Program, National Institutes of Health, 10 Center DR, MSC 1205, RM# 3-2551, Bethesda, MD 20892.
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    • 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.

  • Eva Morava,

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    • Eva Morava is a Professor of Pediatrics and a clinical biochemical geneticist at the Hayward Genetics Center at Tulane University, New Orleans, and also affiliated with the Nijmegen Center for Disorders of Glycosylation, Radboud University Nijmegen Medical Center, IGMD, the Netherlands. Dr. Morava is an editor of the Journal of Inherited Metabolic Disease (JIMD). She has played a lead role in the identification of multiple disorders of glycosylation.

  • Miao He,

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    • Miao He is a biochemical geneticist whose major research interests include genetic disorders in protein glycosylation, cholesterol biosynthesis and fatty acid oxidation. She is an Assistant Professor in the Department of Human Genetics and the Director of the Emory Biochemical Genetics Laboratory at Emory University.

  • Jerry Vockley,

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    • Jerry Vockley is a Professor of Pediatrics in the School of Medicine and a Professor of Human Genetics in the Graduate School of Public Health at the University of Pittsburgh and serves as Chief of Medical Genetics at the Children's Hospital of Pittsburgh. A particular area of clinical and laboratory expertise resides in the area of disorders of fatty acid oxidation. He is a principal investigator in the Sterol and Isoprenoid Diseases (STAIR) consortium of the Rare Diseases Clinical Research Network. Dr. Vockley is the co-founder of NAMA.

  • K. Michael Gibson

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    • K. Michael Gibson is Section Head of Clinical Pharmacology in the College of Pharmacy at Washington State University. Board-certified in Clinical Biochemical Genetics, he is the past director of the Biochemical Genetics Laboratories at Oregon Health and Science University and the University of Pittsburgh School of Medicine. He is Co-Editor-in-Chief of the JIMD, the official publication of the Society for the Study of Inborn Errors of Metabolism (SSIEM), and a Part-Editor of the Online Metabolic & Molecular Bases of Inherited Disease (OMMBID).

  • 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.


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.