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Keywords:

  • disorder of sterol synthesis;
  • SC4MOL deficiency;
  • CK syndrome;
  • cholesterol;
  • desmosterolosis

Abstract

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.