USMLE Lysosomal Storage Diseases
Exam Questions with Correct Verified
Solutions 100% Guaranteed Pass
1. What are the findings in Metachromatic leukodystrophy? - ANS
✓central and peripheral demyelination with ataxia, dementia.
2. what is the deficient enzyme in hurler's syndrome? - ANS
✓alpha-L-iduronidase
3. What is the accumulated substrate and inheritance in hurler's
syndrome? - ANS ✓heparan sulphate, dermatan sulphate, and AR
4. What are the findings in hurler's syndrome? - ANS
✓Developmental delay, gargoylism, airway obstruction. corneal
clouding, hepatosplenomegaly
5. What is the deficient enzyme in hunter's syndrome? - ANS
✓iduronate sulfatase
6. What is the accumulated substrate and inheritance in hunter's
syndrome? - ANS ✓heparan sulphate. dermatan sulphate and XR
7. What are the findings in hunter's syndrome? - ANS ✓mild hurler's
+ aggressive behavior, no corneal clouding.
USMLE Lysosomal Storage Diseases
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