Glycogen storage disease type V
High Yield Notes
7 pages
Flashcards
Glycogen storage disease type V
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
| 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?
Memory Anchors and Partner Content
External References
First Aid
2024
2023
2022
2021
Arrhythmias
McArdle disease p. 85
McArdle disease p. 85
Myoglobinuria
McArdle disease p. 85
Summary
Glycogen storage disease type V, also known as McArdle's disease, is a glycogen metabolism disorder in which an enzyme known as muscle phosphorylase (myophosphorylase) is deficient. Muscle phosphorylase is necessary to break down glycogen stored in muscles into usable glucose. People with Glycogen storage disease type V can present with rhabdomyolysis, myoglobinuria, exercise intolerance, and muscle weakness.
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