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