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Journal of Lipid Research, Vol 37, 1169-1180, Copyright © 1996 by Lipid Research, Inc.
G Salen, S Shefer, AK Batta, GS Tint, G Xu, A Honda, M Irons and ER Elias
The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-
dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last
reaction in cholesterol biosynthesis, the conversion of 7-
dehydrocholesterol to cholesterol. As a result, deficient cholesterol is
produced and the precursor 7-dehydrocholesterol and derivatives (8-
dehydrocholesterol and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol)
accumulate. Tissues (especially brain) deprived of cholesterol, or because
of the deposited sterol precursors and derivatives, develop abnormally and
function poorly. Replacement with dietary cholesterol may help correct the
biochemical defects and improve symptoms.
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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome
VA Medical Center, East Orange, NJ 07019, USA.
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