Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome


  • Gail E. Herman,

    Corresponding author
    • Professor, Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, 700 Children's Dr. Rm W403, Columbus, OH 43205.
    Search for more papers by this author
    • Gail E. Herman, M.D., Ph.D. is a clinical and biochemical geneticist with research interests in mouse models of cholesterol biosynthesis disorders.

  • Lisa Kratz

    Search for more papers by this author
    • Lisa Kratz, Ph.D. is the director of the Biochemical Genetics Laboratory at the Kennedy Krieger Institute and has been involved in diagnostic testing for disorders of cholesterol biosynthesis since 1993.

  • How to Cite this Article: Herman GE, Kratz L. 2012. Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome. Am J Med Genet Part C Semin Med Genet 160C: 301–321.


Since the discovery in 1993 that Smith–Lemli–Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis. © 2012 Wiley Periodicals, Inc.