Which enzyme's mutation is associated with an increased risk of developing familial hypercholesterolemia, a genetic disorder characterized by high levels of LDL cholesterol?

A LDL receptor kinase ✓
B ApoB-100 ligase
C HMG-CoA reductase
D PCSK9 protease

Explanation

Mutations in the LDL receptor gene can lead to familial hypercholesterolemia, a genetic disorder characterized by high levels of LDL cholesterol.

Mnemonic

LDL = Low Density Lipoprotein, Receptor = Receives LDL

Source

OMIM Database
Enzymes in Disease Biochemistry Lipid Metabolism Disorders Hard MEDICAL Confidence: high