Abstract
Abstract The importance of cholesterol metabolism in humans has been recognized for decades. Cholesterol is a major structural component of cell membranes and of myelin. It is also a precursor of bile acids and steroid hormones, including sex steroids, glucocorticoids, mineralocorticoids, neurosteroids, and oxysteroids. While the role of cholesterol in these important biochemical processes has been known for some time, the essential role of cholesterol and the cholesterol metabolic pathway in human development has only been more recently appreciated with the identification of inborn errors of cholesterol metabolism that result in human phenotypes that include structural malformations, as well as growth and mental retardation.
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