The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ7-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.
|Original language||English (US)|
|Number of pages||12|
|Journal||Journal of lipid research|
|State||Published - Jun 1996|
- lathosterol-5- dehydrogenase
ASJC Scopus subject areas
- Cell Biology