SMITH-LEMLI-OPITZ SYNDROME
Introduction and Definition of Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) is a complex, inherited, autosomal recessive disorder characterized primarily by a deficiency in the final step of cholesterol biosynthesis. This metabolic error leads to a systemic accumulation of cholesterol precursors, most notably 7-dehydrocholesterol (7-DHC), and a deficit of essential cholesterol throughout the body. The resulting biochemical […]