The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis

Subcell Biochem. 1997:28:117-44. doi: 10.1007/978-1-4615-5901-6_5.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Cholestadienols / metabolism
  • Cholesterol / biosynthesis*
  • Dehydrocholesterols / metabolism
  • Disease Models, Animal
  • Enzyme Inhibitors / pharmacology
  • Humans
  • Liver / enzymology
  • Oxidoreductases / antagonists & inhibitors
  • Oxidoreductases / deficiency
  • Oxidoreductases / metabolism
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Piperazines / pharmacology
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / metabolism*
  • Smith-Lemli-Opitz Syndrome / therapy

Substances

  • Cholestadienols
  • Dehydrocholesterols
  • Enzyme Inhibitors
  • Piperazines
  • cholesta-5,8-dien-3 beta-ol
  • BM 15766
  • Cholesterol
  • 7-dehydrocholesterol
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase