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Familial Hypercholesterolemia

Familial Hypercholesterolemia. Table 1. Plasma cholesterol levels in normal and. familial. hypercholesterolemic individuals. Plasma cholesterol. Normal. 150-200 mg/dl. Heterozygote. 250-500 mg/dl. Homozygote. 600-1000 mg/dl. FH. FH. Table 2. Defects in the LDL receptor. Defect.

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Familial Hypercholesterolemia

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  1. Familial Hypercholesterolemia

  2. Table 1. Plasma cholesterol levels in normal and familial hypercholesterolemic individuals. Plasma cholesterol Normal 150-200 mg/dl Heterozygote 250-500 mg/dl Homozygote 600-1000 mg/dl FH FH

  3. Table 2. Defects in the LDL receptor. Defect Phenotype Synthesis Most common defect, Receptor not synthesized in the ER Transport Receptor not transported to cell surface, accumulates inside cell LDL Binding Receptor on cell surface, can’t bind to apo B on LDL Internalization Receptor binds to apo B on LDL, can’t internalize LDL Recycling Receptor internalizes LDL, but isn’t recycled to cell surface

  4. Figure 1. A schematic diagram of the LDL receptor. Defects in this receptor lead to FH.

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