Disorders of cholesterol biosynthesis have recently emerged as important errors of
metabolism that collectively have taught us many new genetic and biochemical lessons.
Whereas most metabolic diseases are characterized by exclusively or largely postnatal
biochemical toxicities or deficiencies, disorders of cholesterol biosynthesis are notable for
their severe effects on prenatal development. The remarkable embryonic consequences of
abnormal cholesterol biosynthesis are exemplified by Smith-Lemli-Opitz syndrome (SLOS) …