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10 Cards in this Set
- Front
- Back
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Glucose 6 Phosphatase deficiency
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Von Gierke's disease (type 1).
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Lysosomal α-1,4-glucosidase deficiency
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Pompe's disease (type 2).
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Deficiency of debranching enzyme α-1,6-glucosidase.
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Cori's disease (type 3).
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Skeletal muscle glycogen phosphorylase deficiency.
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McArdle's disease (type 4).
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Cardiomegaly and systemic findings. Early death.
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Pompe's disease.
[Pompe's trashes the Pump, heart/liver/muscle]. |
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Converts glucose-6-phosphate to glucose.
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Glucose-6-phosphatase. (von Gierke's disease).
Final step for both glyconeolysis and gluconeogenesis. |
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Severe fasting hypoglycemia.
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von Gierke's disease.
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Increased glycogen in liver, hepatomegaly, increased blood lactate.
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von Gierke's disease.
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Milder form of type 1 with normal blood lactate levels.
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Cori's disease.
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Increased glycogen in muscles but cannot break it down→ painful cramps, myoglobinuria with strenuous exercise.
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McArdle's disease.
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