Defects of cholesterol biosynthesis.
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.
Waterham
Hans R
HR
Laboratory 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
D000818:Animals; D002784:Cholesterol / Q000096:biosynthesis* / Q000737:chemistry; D004194:Disease; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D013729:Terpenes / Q000378:metabolism
D013729:Terpenes; D002784:Cholesterol