Lysosomal storage disorders Quiz: Ace Your Exams

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A 5-month-old girl undergoes evaluation for failure to thrive. The parents are concerned that she is no longer able to sit or roll over on her own, despite being able to a few weeks ago. She was born at term with a birth weight of 2.5-kg (5.5-lb). Her current height and weight are below the 10th percentile, while at her previous visit 2 months ago, she was in the 40th percentile for both. Vitals are within normal limits. Physical examination reveals marked hypotonia throughout, with decreased deep tendon reflexes noted bilaterally in the upper and lower extremities. Abdominal examination is notable for hepatosplenomegaly. Fundoscopic examination is shown below:

A close-up view of the human retina. It shows the optic disc on the left, a central fovea, and blood vessels branching across the orange-yellow surface.

By Achim Fieß, Ömer Cal, Stephan Kehrein, Sven Halstenberg, Inez Frisch, Ulrich Helmut Steinhorst
Reproduced from Wikimedia Commons" style="max-height: 25px; max-width: 25px;">Wikimedia Commons

If further testing is performed, which of the following enzymes is most likely to be deficient in this patient?  

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Choose an option: