A patient with a rare genetic disorder presents with corneal opacities and hemolytic anemia, but extremely low HDL-C. Biochemical analysis reveals that free cholesterol cannot be esterified on HDL particles. The defective enzyme in this condition is:

• A Lecithin-cholesterol acyltransferase ✓
• B Cholesteryl ester transfer protein
• C Lipoprotein lipase
• D Hepatic lipase

Explanation

Lecithin-cholesterol acyltransferase (LCAT) is synthesized by the liver and acts on HDL to esterify free cholesterol, allowing it to move to the core of the HDL particle. LCAT deficiency prevents HDL maturation, leading to low HDL and corneal cholesterol deposition. CETP transfers cholesteryl esters from HDL to VLDL/LDL. Lipoprotein lipase hydrolyzes triglycerides in chylomicrons and VLDL.

Reference: Harper's Illustrated Biochemistry, 32nd ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.