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Discussion Starter · #1 ·
A 10-month-old male is brought to the pediatrician by his mother who is concerned about his lack of interaction. He was previously playful and happy but now hardly ever smiles. On exam, he is found to have poor muscle tone and a cherry-red macula. Deficiency of which enzyme is most likely?

A. Glucocerebrosidase
B. Glucose-6-phosphatase
C. Hexosaminidase A
D. L-iduronidase
E. Tyrosinase
 
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