Definition
Glycogen storage disease type VII is a metabolic disease characterized by phosphofructokinase enzyme deficiency, exercise intolerance, and hemolytic anemia.
Symptoms
- Exercise intolerance
- Muscle pain
- Hemolytic anemia
- Hyperuricemia
Reasons
PFKM gene mutation.
Diagnosis
Muscle biopsy, genetic testing.
Treatment
Exercise restriction.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of myoglobinuria, emergency services should be consulted.
This page is for general information purposes only.