PFKM AR unreviewed
Tarui disease (GSD VII)
Enzyme or protein defect
Phosphofructokinase-1
Accumulates or becomes deficient
Muscle glycogen
Key features
Exercise intolerance with haemolysis; no second wind
Management
Supportive
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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