Defects of cholesterol biosynthesis
作者： Hans R. Waterham
DOI: 10.1016/J.FEBSLET.2006.07.027
关键词: Cholesterol 、 Internal medicine 、 Endocrinology 、 Sterol 、 Embryogenesis 、 Enzyme 、 Biology 、 Human embryogenesis 、 Disease 、 Biochemistry 、 Pathophysiology 、 Gene
摘要: Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following finding of abnormally increased levels intermediate metabolites patients and confirmed by demonstration disease-causing mutations genes encoding implicated enzymes. Patients afflicted with these are characterized multiple morphogenic congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol human embryogenesis development. The etiology underlying pathophysiology may involve affected processes due lowered elevated, teratogenic sterol precursors.
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