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Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Smith-Lemli-Opitz syndrome is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol reductase.
Clinical variability has been noted, even within families, and the severity of SLOS ranges from severe to mild.
Elevated plasma concentrations of 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) are highly suggestive of a biochemical diagnosis of Smith-Lemli-Opitz syndrome.
Gas Chromatography-Mass Spectrometry (GC-MS)