Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

Am J Med Genet. 1994 May 1;50(4):347-52. doi: 10.1002/ajmg.1320500409.

Abstract

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diet therapy
  • Abnormalities, Multiple / metabolism*
  • Adolescent
  • Bile Acids and Salts / biosynthesis
  • Child
  • Child, Preschool
  • Cholesterol / biosynthesis*
  • Cholesterol, Dietary / therapeutic use
  • Dehydrocholesterols / blood
  • Face / abnormalities
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Intellectual Disability* / diet therapy
  • Intellectual Disability* / metabolism
  • Lipid Metabolism, Inborn Errors / diet therapy
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Male
  • Microcephaly
  • Oxidoreductases / deficiency
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Sterols / blood
  • Syndrome
  • Ursodeoxycholic Acid / therapeutic use

Substances

  • Bile Acids and Salts
  • Cholesterol, Dietary
  • Dehydrocholesterols
  • Sterols
  • Ursodeoxycholic Acid
  • Cholesterol
  • 7-dehydrocholesterol
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase