[HTML][HTML] Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

PE Jira, RA Wevers, J de Jong, E Rubio-Gozalbo… - Journal of Lipid …, 2000 - ASBMB
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Δ 7-dehydrocholesterol
reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in
low cholesterol and high concentrations of its direct precursors 7-dehydrocholesterol
(7DHC) and 8DHC. We hypothesized that i) 7DHC and 8DHC accumulation contributes to
the poor outcome of SLOS patients and ii) blood exchange transfusions with
hydroxymethylglutaryl (HMG)-CoA reductase inhibition would improve the precursor-to …