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NBME 16 Answers

nbme16/Block 2/Question#13 (reveal difficulty score)
A 5-year-old boy is brought to the physician ...
Lysosomes ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags: biochem icell repeat

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submitted by โˆ—medninja(20)
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iury_r1beiro  FA 2020 p 47 +1
an1  this is I-cell disease. we can tell because it's in a child (indicating AR as those occur in younger ages for the most part), he has recurrent infections, HSM (because the lipids, carbs, and proteins aren't broken down in the lysosome, they enter the blood and may deposit in the liver, spleen, heart, and bone resulting in enlargement), the presence of a NAG is right from FA. these proteins are not tagged with manose-6-phosphate and so don't go to the lysosome for degradation, lysosomal levels also increase in the blood. patients often present just like hurlers, + claw hand and kyphoscolosis. +

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