Glycogen storage disease type V

Summary of Glycogen storage disease type V
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.

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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
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

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High Yield Notes
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Flashcards

Glycogen storage disease type V

11 flashcards
Preview

The genetic inheritance of McArdle disease (glycogen storage disease type V) is .

Questions

USMLE® Step 1 style questions USMLE

1 questions

USMLE® Step 2 style questions USMLE

1 questions
Preview

 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