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Glycogen storage disease type V

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Genetics

Genetics

Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
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
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Assessments
Glycogen storage disease type V

Flashcards

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Questions

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High Yield Notes
7 pages
Flashcards

Glycogen storage disease type V

11 flashcards
Questions

USMLE® Step 1 style questions USMLE

3 questions
Preview

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:

 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
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.