Categories: BiochemistryFlash Card

General Features Of Glycogen Storage Disorders – Carbohydrates – Biochemistry

Glucose 6 phosphatase is seen in?
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Liver

Fructose 1,6 bisphosphatase is seen in?
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Liver and skeletal muscle

NOT a glycogen storage disease?
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Fabry disease

NOT a feature of Pompe’s disease?
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Hyperglycemia

Coarse facies, hepatosplenomegaly, tall QRS?
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Glycogen storage disease type II

Treatment of Pompe’s disease?
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Myozyme

McArdle Disease?
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Muscle Phosphorylase

Second wind phenomenon?
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McArdle disease

Danon disease?
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Burgundy colored urine?
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McArdle syndrome
DaVinci

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DaVinci
3 years ago

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