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12 Cards in this Set
- Front
- Back
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Von Gierke's Disease involves deficiency in what enzyme?
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Glucose-6-Phosphatase
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Pompe's Disease involves deficiency in what enzyme?
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Lysosomal alpha-1,4 Glucosidase
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Cori's Disease involves deficiency in what enzyme?
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Debranching enzyme of glycogenolysis
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Andersen's Disease involves deficiency in what enzyme?
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Branching enzyme of glycogenolysis
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McArdle's Disease involves deficiency in what enzyme?
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Glycogen phosphorylase within muscle tissues
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Hers' Disease involves deficiency in what enzyme?
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Glycogen phosphorylase within hepatic tissue
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Symptoms of Von Gierke's Disease?
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-Extreme hypoglycemia
-Hyperlipidemia -Lactic acidosis -Hepatomegaly -Short stature |
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Symptoms of Pompe's Disease?
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-Cardiomegaly
-Hepatomegaly -Glycogen granules upon biopsy -Early death |
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Symptoms of Cori's Disease?
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Visible glycogen malformation (numerous stubs of alpha-1,6 glucose linkages)
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Symptoms of Anderson's Disease?
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Visible glycogen malformation (linear glycogen; absence of branching or alpha-1,6 "stubs")
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Symptoms of McArdle's Disease?
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-Exercise-induced muscular fatigue, cramping, and pain
-High glycogen concentrations in muscular tissue -Normal liver and blood glucose |
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Symptoms of Hers' Disease?
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-Hepatomegaly
-High glycogen concentration in hepatic tissue -Slight (if any) hypoglycemia due to gluconeogenesis pathway |
