Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Am J Med Genet. 1997 Jan 31;68(3):305-10. doi: 10.1002/(sici)1096-8628(19970131)68:3<305::aid-ajmg11>;2-x.


We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-"Smith-Lemli-Opitz" syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy were seen in all patients, irrespective of age at onset of treatment, or severity of cholesterol defect. Effects of treatment included improved growth, more rapid developmental progress, and a lessening of problem behaviors. Pubertal progression in older patients, a better tolerance of infection, improvement of gastrointestinal symptoms, and a diminution in photosensitivity and skin rashes were also noted. There were no adverse reactions to treatment with cholesterol. This preliminary study suggests that cholesterol supplementation may be of benefit to patients with the SLOS.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Behavior
  • Bile Acids and Salts / administration & dosage
  • Bile Acids and Salts / therapeutic use
  • Cataract / drug therapy
  • Cataract / physiopathology
  • Child
  • Child, Preschool
  • Cholesterol / therapeutic use*
  • Cholesterol, Dietary / administration & dosage
  • Cholesterol, Dietary / therapeutic use
  • Endocrine Glands / physiology
  • Female
  • Follow-Up Studies
  • Gastrointestinal Diseases / drug therapy
  • Gastrointestinal Diseases / physiopathology
  • Growth
  • Humans
  • Infant
  • Infant, Newborn
  • Infections / drug therapy
  • Infections / physiopathology
  • Male
  • Skin Diseases / drug therapy
  • Skin Diseases / physiopathology
  • Smith-Lemli-Opitz Syndrome / diet therapy
  • Smith-Lemli-Opitz Syndrome / drug therapy*
  • Smith-Lemli-Opitz Syndrome / physiopathology


  • Bile Acids and Salts
  • Cholesterol, Dietary
  • Cholesterol