Mc Ardle's disease Flashcards

1
Q

Enzyme deficiency

A

Myophosphorylase

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2
Q

Location

A

muscle

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3
Q

symptoms

A
1. exercise tolerance
cramping, fatigue, pain
2.post exercise red urin
rhabomyolysis- myoglobinuria . renal failure
3.second wind phenomenon
10 min rest
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4
Q

Diagnosis

A

1.Ischemic forearm test
if lactate low, ammonia high after exercise

  1. creatine kinase level
    increased in patients
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5
Q

Treatment

A

diet: high protein, sucrose

activity- no intense exercise

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