[HTML][HTML] Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver
A Honda, G Salen, S Shefer, AK Batta, M Honda… - Journal of lipid …, 1999 - ASBMB
Abstract The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome
caused by a deficiency of 3β-hydroxysterol Δ 7-reductase, the final enzyme in the
cholesterol biosynthetic pathway. The patients have reduced plasma and tissue cholesterol
concentrations with the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol.
Bile acid synthesis is reduced and unnatural cholenoic and cholestenoic acids have been
identified in some SLOS patients. To explore the mechanism of the abnormal bile acid …
caused by a deficiency of 3β-hydroxysterol Δ 7-reductase, the final enzyme in the
cholesterol biosynthetic pathway. The patients have reduced plasma and tissue cholesterol
concentrations with the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol.
Bile acid synthesis is reduced and unnatural cholenoic and cholestenoic acids have been
identified in some SLOS patients. To explore the mechanism of the abnormal bile acid …