Defects of cholesterol biosynthesis
- 20 July 2006
- journal article
- review article
- Published by Wiley in FEBS Letters
- Vol. 580 (23) , 5442-5449
- https://doi.org/10.1016/j.febslet.2006.07.027
Abstract
Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following the finding of abnormally increased levels of intermediate metabolites in patients and confirmed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol in human embryogenesis and development. The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors.Keywords
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