Inborn errors of sterol biosynthesis

Richard I. Kelley, Gail E. Herman

Research output: Contribution to journalReview articlepeer-review


The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders - mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia - has added to our knowledge of the relationship between cholesterol metabolism and embryogenesis. One of the most important lessons learned from the study of these disorders is that abnormal cholesterol metabolism impairs the function of the hedgehog class of embryonic signaling proteins, which help execute the vertebrate body plan during the earliest weeks of gestation. The study of the enzymes and genes in these several syndromes has also expanded and better delineated an important class of enzymes and proteins with diverse structural functions and metabolic actions that include sterol biosynthesis, nuclear transcriptional signaling, regulation of meiosis, and even behavioral modulation.

Original languageEnglish (US)
Pages (from-to)299-341
Number of pages43
JournalAnnual Review of Genomics and Human Genetics
StatePublished - 2001


  • Cholesterol biosynthesis
  • Chondrodysplasia punctata
  • Desmosterolosis
  • Mevalonic aciduria
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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