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

M. Irons*, E. R. Elias, G. S. Tint, G. Salen, R. Frieden, T. M. Buie, M. Ampola

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

85 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)347-352
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume50
Issue number4
DOIs
StatePublished - 1994
Externally publishedYes

Keywords

  • 7-dehydrocholesterol
  • autosomal recessive inheritance
  • bile acids
  • cholesterol
  • inborn error of metabolism
  • multiple congenital anomalies syndrome
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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