The Smith-Lemli-Opitz syndrome, characterized by limb, face and organ abnormalities, and mental retardation, is caused by an inherited block in the step of cholesterol biosynthesis in which the 7 double bond of 7-dehydrocholesterol is reduced. It is diagnosed by the presence of markedly elevated lev
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith–Lemli–Opitz syndrome
✍ Scribed by Małgorzata J. M. Nowaczyk
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 31 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol ⌬ 7 -reductase. The syndrome can usually be diagnosed by demonstrating markedly increased plasma concentrations of the cholesterol precursor, 7-dehydrocholesterol. We describe a simple and rapid
Smith±Lemli±Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the ®nal enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol D 7 -reductase (DHCR7). We diagnosed SLOS i