Definition
Glycogen storage disease type V is a metabolic disease characterized by muscle phosphorylase enzyme deficiency, exercise intolerance, and myoglobinuria.
Symptoms
- Exercise intolerance
- Muscle cramps
- Myoglobinuria
- Second wind phenomenon
Reasons
PYGM gene mutation.
Diagnosis
Muscle biopsy, genetic testing.
Treatment
Pre-exercise carbohydrate intake.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of myoglobinuria and renal failure, emergency services should be consulted.
This page is for general information purposes only.