Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

CHL Shackleton, E Roitman, R Kelley - Steroids, 1999 - Elsevier
The biosynthetic abnormality in Smith-Lemli-Opitz syndrome (SLOS) is a deficiency of 7-
dehydrocholesterol (7DHC) reductase, the enzyme responsible for catalyzing the final step
in the Kandutsch-Russell pathway for cholesterol synthesis. Because the disposition of
7DHC and 8-dehydrocholesterol [8DHC; cholesta-5, 8 (9)-dien-3β-ol] produced in this
syndrome is little understood, we have analyzed urine from three young infants by gas
chromatography/mass spectrometry to characterize its steroid metabolites. All steroid …