Familial hypercholesterolemia is a genetic condition characterized by an absence of functional LDL receptors on the surface of cells. Patients who are homozygous for familial hypercholesterolemia usually die of coronary artery disease in childhood. Which of the following disorders could mimic the symptoms of familial hypercholesterolemia?

Human Physiology: From Cells to Systems (MindTap Course List)
9th Edition
ISBN:9781285866932
Author:Lauralee Sherwood
Publisher:Lauralee Sherwood
Chapter2: Cell Physiology
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Familial hypercholesterolemia is a genetic condition characterized by an absence of functional LDL receptors on the surface of cells. Patients who are homozygous for familial hypercholesterolemia usually die of coronary artery disease in childhood.

Which of the following disorders could mimic the symptoms of familial hypercholesterolemia?

(A) LDL receptor endocytosis machinery is non-functional (B) lack of ATP allosteric site on AMPK
(C) Golgi proteases that cleave SREBP are not synthesized (D) mutation in the HMG CoA reductase SRE sequence. (E) inability to secrete VLDL from the liver

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