This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Lipids, Subject name: Biochemistry
Familial hypercholesterolemia is: 
Select and explain. 
A. Deficient LDL receptors, B. Deficient HDL receptors, C. HMG-CoA reductase deficiency, D. Deficient VLDL receptors
A: Deficient LDL receptors
Answer: A: Deficient LDL receptors 
Explanation: 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