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

Genetic defects in sterol synthesis, absorption, and degradation into bile acids
Chapter:
Genetic defects in sterol synthesis, absorption, and degradation into bile acids
Author(s):

Stefano Romeo

DOI:
10.1093/med/9780199235292.003.1246
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date: 22 November 2019

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.

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