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6 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Von Gierke's disease
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Deficient: Glucose 6-phosphatase (liver and kidney)
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Glycogen Structure - normal
Presents - severe fasting hypoglycemia, ketosis, hyperlipidemia, lactic acidosis, englarged liver and kidneys |
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Pompe's disease
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Deficient: alpha-1,4-glucosidase (lysosomes)
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Glycogen Structure - normal
Presents - infant form: mental retardation, hypotonia, cardiomegaly leading to death by age 2 |
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Cori's disease
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Deficient: debranching enzyme (muscle and liver), amylo-alpha-1,6-glucosidase
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Glycogen Structure - abnormal (many short-branched chains)
Presents: mild hypoglycomia, hepatomegaly, decreased free glucose after epinepherine challange |
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Andersen's disease
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Deficient: branching enzyme (liver and spleen), glucosyl 4,6-transferase
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Glycogen Structure - few long chains with very few branches
Presents - hepatosplemomegaly cirrhosis, liver failure leading to death by age 2 |
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McArdle's disease
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Deficient: muscle glycogen phosphorylase
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Glycogen Structure - normal
Presents - muscle cramping, fatigue, and myoglobinuria with strenuous exercise, no increase in lactic acid after exercise |
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Hers'
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Deficient: liver glycogen phosphorylase
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Glycogen Structure - normal
Presents - similar to von Gierke's disease but less severe (fasting hypoglycemia, hyperlipidemia, lactic acidosis, enlarged liver and kidneys) |
