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

✍ Scribed by Irons, Mira ;Elias, Ellen Roy ;Tint, G. S. ;Salen, Gerald ;Frieden, Roger ;Buie, Timothy M. ;Ampola, Mary

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
630 KB
Volume
50
Category
Article
ISSN
0148-7299

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✦ Synopsis

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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