Chapter

Genetic defects in sterol synthesis, absorption, and degradation into bile acids

Stefano Romeo

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI: http://dx.doi.org/10.1093/med/9780199235292.003.1246

Series: Oxford Textbooks

Genetic defects in sterol synthesis, absorption, and degradation into bile acids

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Cholesterol is the most abundant steroid in animals. Not only is it a vital constituent of cell membranes, where it establishes proper membrane permeability and fluidity, but it is also the immediate metabolic precursor of all known steroid hormones and bile acids. Synthesized de novo in cells or absorbed from the diet, cholesterol circulates in the body in association with lipoproteins and is ultimately degraded into bile acids by the liver. Every perturbation of the numerous enzymes involved in cholesterol metabolism leads to impairment in the development and function of the gastrointestinal, cardiovascular, skeletal, and nervous systems.

Chapter.  2988 words. 

Subjects: Endocrinology and Diabetes

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