Metabolism USMLE Step 1 Practice Question
A 24-year-old man presents with progressive burning pain in his hands and feet worsening with exercise. Vital signs show BP 138/88, HR 98, RR 16, temp 37°C, SpO2 98%. He has clusters of dark red papules over the lower trunk and markedly decreased sweating. Urinalysis reveals proteinuria; serum creatinine is normal. He denies fever or recent infections. Which enzyme deficiency most likely explains these findings?
Answer choices
- AAlpha galactosidase ACorrect answer
- BHexosaminidase A
- CBeta glucocerebrosidase
- DIduronidase
- ESphingomyelinase
- FGalactocerebrosidase
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