Glycogen storage disease type V
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Glycogen storage disease type V
Biochemistry
Biochemistry and metabolism
Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Glycolysis
Pentose phosphate pathway
Physiological changes during exercise
Cholesterol metabolism
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism
Metabolic disorders
Alkaptonuria
Cystinuria (NORD)
Hartnup disease
Homocystinuria
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Lactose intolerance
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Krabbe disease
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Cystinosis
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Assessments
Flashcards
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USMLE® Step 1 questions
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High Yield Notes
7 pages
Flashcards
Glycogen storage disease type V
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Questions
USMLE® Step 1 style questions USMLE
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A 20-year-old man comes to the emergency department with painful muscle spasms. He notices that these episodes worsen after a run and seem to improve after brief periods of rest. 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?
External References
First Aid
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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.