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BC
Biochemistry
McArdle Disease (GSD Type V)
Key Concept
Myophosphorylase deficiency prevents glycogen breakdown in muscle. Patients can't use muscle glycogen during exercise → exercise intolerance, myalgia, and the "second wind" phenomenon.
Clinical Pearl
No rise in lactate during ischemic forearm exercise test. Myoglobinuria can lead to acute kidney injury after intense exercise.
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