Familial hypercholesterolemia is:
Deficient LDL receptors
Deficient HDL receptors
HMG-CoA reductase deficiency
Deficient VLDL receptors
Ans. A. Deficient LDL receptors(Ref: Harrison 19/e, Table356.3)Frederickson TypeNomenclatureMolecular DefectType IIaFamilial hypercholesterolemia (FH)LDL receptorFamilial defective Apo B (FDB)Apo B100Autosomal dominant hypercholesterolemia Type II (ADH Type II) Autosomal dominant hypercholesterolemia Type III (ADH Type III)PCS K9Autosomal recessive hypercholesterolemia (ARH)LDL receptor adapter protein (LDLRAP)SitosterolemiaABCG5 or ABCG8
Lipids