Glycogen storage disorders Quiz: Ace Your Exams
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A 20-year-old man comes to the emergency department with painful muscle spasms. He reports that after starting a run, he experiences muscle cramps and fatigue, but these symptoms tend to improve after about 10 minutes of continued activity. His past medical history includes a right knee ACL tear. His temperature is 37.0°C (98.6°F), pulse is 80/min, respirations are 16/min, and blood pressure is 125/75 mmHg. Abdominal examination is unremarkable. Rapid fingerstick glucose is 80 mg/dL. Serum creatine kinase levels are elevated. Laboratory investigations are shown below:
Electrocardiogram and echocardiogram are unremarkable. Which of the following is the most likely diagnosis?
| Serum | |
| Sodium | 140 mEq/L |
| Potassium | 4 mEq/L |
| Creatinine | 1.3 mg/dL |
| Creatine kinase | 645 U/L |
| Urine | |
| BUN/Cr | <15 |
| Blood | Positive |
| Erythrocytes | 0/hpf |
| Leukocytes | 2/hpf |
| Fractional excretion of sodium (FENa) | >2% |
Electrocardiogram and echocardiogram are unremarkable. Which of the following is the most likely diagnosis?
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