Identifies a defect in cholesterol biosynthesis in Smith-Lemli-Opitz syndrome, offering a biochemical marker for diagnosis and potential therapeutic avenues.
May support cholesterol assay for SLO diagnosis; hypothesis-generating pending validation in larger cohorts.
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.
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Irons et al. (1994) studied this question.
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