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Updated: Aug 6, 2026

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol
Published on: March 25, 2020
Defects of cholesterol biosynthesis
1Laboratory Genetic Metabolic Diseases, F0-224, Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands. h.r.waterham@amc.uva.nl
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.
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