Enzyme or protein defect
Myophosphorylase
Accumulates or becomes deficient
Muscle glycogen
Key features
Exercise intolerance, cramps, myoglobinuria, second-wind phenomenon; normal blood glucose
Management
Moderate exercise; sucrose pre-exercise
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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