What are the treatment options for Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
  • Print
Answer

As mentioned, no treatment has so far proven effective long-term for patients with Smith-Lemli-Opitz syndrome. [2] Potentially, cholesterol supplementation is a logical treatment because it may be expected to raise plasma and tissue cholesterol levels. By feedback inhibition of hydroxymethylglutaryl-coenzyme-A-reductase, cholesterol supplementation may reduce levels of 7DHC and related cholesterol intermediates that may be toxic.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!