NBME 18 alpha-1,4-Glucosidase (NBME Answers)

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NBME 18 Answers

nbme18/Block 4/Question#42 (reveal difficulty score)
4 month old boy, abnormal glycogen storage
alpha-1,4-Glucosidase 🔍 / 📺 / 🌳 / 📖
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submitted by ∗sympathetikey(1600)

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• Pompe Disease (Type 2)
    ○ Lack of - Lysosomal Debranching Enzyme (α-1,6 Glucosidase)
    ○ Buildup of 1,6 linkages
    ○ Presentation:
        § 1. Cardiomegaly

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sympathetikey *1,4 glucosidase +4

handsome what is the meaning/significance of 16.8difficult score? +

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submitted by ∗shelbinator94(1)

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Why couldn't this be branching enzyme impairment? They both cause cardiac symptoms (according to Amboss at least)

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