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Review Question - QID 108452

Lysosome Lysosomal Storage Disease (by Deficient Enzymes) Sphingolipidoses QID: 108452 (M1.BC.17.4707)
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QID 108452 (Type "108452" in App Search)
A 2-year-old girl is brought to a geneticist for evaluation after suffering a deterioration of physical and mental capabilities for the last year. She had developed normally for the first 6 months but then began to have progressive developmental delay. She was also found to have an exaggerated startle reflex. Physical exam reveals the finding shown in Figure A but is otherwise unremarkable. Electron microscopy of neurons and phagocytic cells, if performed, would have revealed the finding shown in Figure B. Which of the following enzymes is most likely deficient in this patient?
  • A
  • B
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  • A
  • B