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Glycogen storage disease type V





Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
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Klinefelter syndrome
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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
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
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Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
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

Glycogen storage disease type V


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High Yield Notes
7 pages

Glycogen storage disease type V

11 flashcards

USMLE® Step 1 style questions USMLE

1 questions

 A 20-year-old man comes to the office for the evaluation of exercise intolerance. The patient mentions that he recently started a summer job as football coach assistant and that he is concerned because he can't keep up with the physical demand of his new job. Upon further interrogation, the patient says that he has severe and painful cramping on the first 15 to 20 minutes of warm-up exercise, and after this period he can exercise without a problem. Physical examination shows minimal proximal weakness. His temperature is 36.7°C (98°F), pulse is 110/min, respirations are 14/min, blood pressure is 120/80 mmHg, and saturation is 82%. Fasting blood glucose is 87 mg/dL (4.8 mmol). Urinalysis after exercise is obtained and shown below.  

A deficiency of which of the following enzyme activities is the most likely cause of the findings in this patient?

External References
Glycogen storage disease type V,  also known as McArdle disease, is a glycogen storage disease caused by a deficiency of myophosphorylase, which is responsible for glycogen storage in skeletal muscles.