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Review Question - QID 210920

Lysosome Lysosomal Storage Disease (by Deficient Enzymes) Sphingolipidoses QID: 210920 (M1.OMB.18.1)
In scope icon N/A B
QID 210920 (Type "210920" in App Search)
A 1-year-old girl is brought to her pediatrician because she has not been feeding for the last 2 days. Specifically, her parents are worried that she appears listless and doesn't respond to stimuli as she did previously. She appeared to be healthy at birth though she has been missing developmental milestones since then. For example, she cannot sit unaided and does not repeat sounds or actions. Physical exam reveals hepatosplenomegaly and cherry red spots on her macula. Examination of a peripheral blood smear reveals cells that appear as in Figure A. Which of the following enzymes is most likely defective in this patient?
  • A
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  • A