Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome

Gail E. Herman, Lisa Kratz

Research output: Contribution to journalArticlepeer-review

Abstract

Since the discovery in 1993 that Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis.

Original languageEnglish (US)
Pages (from-to)301-321
Number of pages21
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number4
DOIs
StatePublished - Nov 15 2012

Keywords

  • CK syndrome
  • Cholesterol
  • Desmosterolosis
  • Disorder of sterol synthesis
  • SC4MOL deficiency

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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