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Metabolism > Glycogen Storage Disease > Flashcards

Glycogen Storage Disease Flashcards

1
Q

What is glycogen storage disease also known as?

A

McArdle’s disease

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2
Q

What is the inheritance pattern?

A

Autosomal recessive

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3
Q

What is the pathophysiology?

A

Myophosphorylase deficiency cause decreased muscle glycogenolysis

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4
Q

What are the clinical features?

A

Muscle pain after exercise
Muscle cramps
Myoglobinuria
Low lactate during exercise

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Metabolism (10 decks)

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