Question NO. 1
A 10-month-old baby is being evaluated for visual problems and
motor incoordination. Examination of the child’s fundus reveals a bright
“cherry red spot” at the macula. Talking to the family of this visually
impaired 10-month-old infant, you find that they are Jewish and their
family is from the eastern portion of Europe (Ashkenazi Jews). Based on
this specific family history, which one of the following enzymes is most
likely to be deficient in this infant?
a. Aryl sulfatase
b. β-glucocerebrosidase
c. Hexosaminidase A
d. Hexosaminidase B
e. Sphingomyelinase
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