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Biochemistry Lipid Oxidation and Synthesis d1078f8a

Type 2 hypercholesterolemia occurs due to -

A
Lipoprotein lipase deficiency
B
Absence of LDL receptors on cells
C
Abnormality in apo E
D
LCAT deficiency
High-Yield Explanation
Ans. is 'b' i.e., Absence of LDL receptors on cells Primary' hyperlipoproteinemias caused by known single gene mutationsGenetic DisorderGene DefectLipoproteinsCI/fGenetic transmission1.Lipoprotein lipase deficiencyLPLChylomicronsEruptive xanthomas, HSM, pancreatitisAR2Familial apolipoprotein C-II deficiencyApoC-IIChylomicrons"---------------"AR3.Apo A-V deficiencyApoA-VChylomicrons VLDL"---------------"AD4.Familial hepatic lipase deficiencyHepatic lipaseVLDL remnantsPremature atherosclerosis pancreatitisAR5.Familial dysbetalipoproteinemiaapoEChylomicron and VLDL remnantsPalmar and tuberoeruptive xanthomas, CHD, PVDAR6.Familial hypercholesterolemiaLDL receptorLDLTendon xanthomas, CHDAD7.Familial defective apoR-100apoB-100 (Arg3500-Gln)LDL"---------------"AD8.AD hypercholesterolemiaPCSK9LDL"---------------"AD9.AR hypercholesterolemiaARHLDL"---------------"AR10.SitosterolemiaABCG5 or 8LDL"---------------"AR

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