The primary symptoms of Tarui disease (Phosphofructokinase deficiency) relate to exercise intolerance and muscle issues.
Symptoms of Tarui Disease
Tarui disease primarily affects muscles, leading to difficulties during physical activity. Symptoms can vary in severity from person to person.
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Exercise Intolerance: This is a key symptom. Individuals experience difficulty performing exercises that would typically be manageable.
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Muscle Pain and Cramps: These often occur during or after exercise.
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Myoglobinuria: In some instances, acute muscle breakdown can occur, leading to myoglobinuria. This condition causes rust-colored urine.
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"Second Wind" Phenomenon: While similar to phosphorylase deficiency (McArdle's disease), individuals with Tarui disease are less likely to experience the "second wind" phenomenon, where symptoms improve with continued exercise after an initial period of difficulty.
| Symptom | Description |
|---|---|
| Exercise Intolerance | Difficulty performing exercises. |
| Muscle Pain/Cramps | Pain and cramping in muscles, especially during or after exercise. |
| Myoglobinuria | Acute muscle breakdown causing rust-colored urine. |
| Reduced "Second Wind" | Less likely to experience symptom improvement with continued exercise. |
