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NBME 18 Answers

nbme18/Block 4/Question#42

4 month old boy, abnormal glycogen storage

alpha-1,4-Glucosidase

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submitted by sympathetikey(312),
• Pompe Disease (Type 2)
    ○ Lack of - Lysosomal Debranching Enzyme (α-1,6 Glucosidase)
    ○ Buildup of 1,6 linkages
    ○ Presentation:
        § 1. Cardiomegaly
sympathetikey  *1,4 glucosidase +