Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

Am J Med Genet. 1997 Jan 31;68(3):311-4.


Patients with the RSH or Smith-Lemli-Optiz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consisting of administration of cholesterol +/- bile acids was initiated in an attempt to correct the biochemical abnormalities seen. Fourteen patients (8 female, 6 male: ages 2 months to 15 years) have now been treated for 6-15 months. Three patients received cholesterol alone, while 11 patients received cholesterol and one or more bile acids. Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all patients. The most marked improvement was noted in patients presenting with initial cholesterol levels < 40 mg/dl. No toxicity was observed. Clinical improvement in growth and neurodevelopmental status was also observed.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Bile Acids and Salts / adverse effects
  • Bile Acids and Salts / therapeutic use*
  • Child
  • Child, Preschool
  • Cholesterol / adverse effects
  • Cholesterol / blood
  • Cholesterol / therapeutic use*
  • Clinical Protocols
  • Drug Therapy, Combination
  • Female
  • Humans
  • Infant
  • Male
  • Smith-Lemli-Opitz Syndrome / blood
  • Smith-Lemli-Opitz Syndrome / drug therapy*
  • Sterols / blood


  • Bile Acids and Salts
  • Sterols
  • Cholesterol