Biochemistry Quiz#26 Lysosomal Storage Diseases

1. A 30-year-old man presents with easy bruising, fatigue, and splenomegaly. Laboratory tests reveal pancytopenia. A bone marrow biopsy shows the presence of Gaucher cells. Which enzyme is deficient in this patient? 

Question 1 of 5

2. A 6-month-old infant presents with exaggerated startle response and cherry-red spots on the macula. Fundoscopy images are shown below. The infant appears to have lost motor skills previously acquired. Which enzyme is deficient in this patient? 

Question 2 of 5

3. A 20-year-old man presents with episodes of pain and burning sensations in his hands and feet, angiokeratomas on his skin, and has been treated for recurrent kidney stones. Laboratory tests reveal proteinuria. Which enzyme is deficient in this patient? 

Question 3 of 5

4. A 2-year-old boy presents with progressive neurological deterioration, hepatosplenomegaly, cherry-red spots on the macula, and a history of recurrent respiratory infections. A deficiency in which of the following enzymes is most likely responsible for his condition? 

Question 4 of 5

5. A 5-month-old infant presents with failure to thrive, coarse facial features, clouding of the cornea, and restricted joint movement. An image of a patient with a similar condition is show below. Enzymatic assays show a deficiency in α-L-iduronidase. Which of the following is the most likely diagnosis? 

Question 5 of 5


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