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OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with Smith-Lemli-Opitz syndrome.
II. Measure the effect of dietary cholesterol on plasma sterol composition. III. Quantify basal cholesterol synthesis, turnover of cholesterol and 7-dehydrocholesterol, and the effects of dietary cholesterol on these parameters.
IV. Identify fecal bile acid excretion quantitatively and qualitatively in these patients.
V. Compare the incorporation of deuterated water into plasma cholesterol, 7-dehydrocholesterol, and other intermediates, and assess the effect of dietary cholesterol on this incorporation.
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PROTOCOL OUTLINE:
Patients are treated with 2 dietary regimens for 1 to 3 weeks: high cholesterol and cholesterol-free. Cholesterol is provided in the form of egg yolk. The absorption and metabolism of cholesterol are evaluated with plasma and fecal studies. Deuterated water is given to patients followed by analysis of deuterium in plasma cholesterol and other intermediates, including 7-dehydrocholesterol.
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PROTOCOL ENTRY CRITERIA:
Smith-Lemli-Opitz syndrome
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Data sourced from clinicaltrials.gov
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