Which of the following best describes the cholesterol levels in individuals with Smith-Lemli-Opitz Syndrome?

Individuals with Smith-Lemli-Opitz Syndrome (SLOS) typically exhibit low levels of cholesterol due to a metabolic defect in the enzyme responsible for cholesterol synthesis. This condition arises from a mutation in the DHCR7 gene, which encodes the enzyme 7-dehydrocholesterol reductase. As a result of this enzymatic deficiency, there is an accumulation of 7-dehydrocholesterol and a significant deficiency of cholesterol in the body.

In SLOS, the insufficient production of cholesterol can lead to various developmental and physical abnormalities, as cholesterol is essential for numerous biological functions, including cell membrane integrity, hormone production, and the development of the nervous system. Therefore, the description that best fits the cholesterol levels in individuals with Smith-Lemli-Opitz Syndrome is the one that indicates not enough cholesterol is present. This deficiency is a hallmark of the syndrome and has significant implications for health and development in affected individuals.