Table 5.

Targeted Treatment of Manifestations in Individuals with Smith-Lemli-Opitz Syndrome


Low cholesterol & ↑ cholesterol precursors 1

To ↑ cholesterol levels & ↓ 7-DHC & 8-DHCCholesterol supplementation 2, 3, 4, 5Those w/a more severe biochemical defect require larger doses of cholesterol.

Including 7-dehydrocholesterol (7-DHC) and 8-DHC


Egg yolk or crystalline cholesterol in an oil-based or aqueous suspension


Dietary studies on cholesterol supplementation have not been conducted in a randomized fashion.


Dietary therapy does not appear to increase the levels of cholesterol in CSF [van Rooij et al 1997].


Cholesterol supplementation should be considered in all individuals with SLOS because it may result in clinical improvement and has minimal side effects [Svoboda et al 2012, Thurm et al 2016].

From: Smith-Lemli-Opitz Syndrome

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