Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Smith-Lemli-Opitz syndrome (SLO) 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 SLO 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 SLO.
Gas Chromatography-Mass Spectrometry (GC-MS)