Lipid Biochemistry USMLE Step 1 Practice Question
A 3-year-old boy presents with failure to thrive, hepatosplenomegaly, and developmental delay. Vital signs show HR 102/min, RR 24/min, temp 37.8°C. Laboratory analysis reveals triglycerides 1200 mg/dL with milky serum; amylase elevated at 250 U/L. His mother reports severe abdominal pain and fever after fatty meals. He denies eruptive xanthomas. Currently takes no medications. Which enzyme deficiency best explains this presentation?
Answer choices
- APhospholipase A2
- BCholesteryl ester transfer protein
- CHepatic lipase
- DHMG-CoA reductase
- ELipoprotein lipaseCorrect answer
- FApolipoprotein C-II
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