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10 Cards in this Set

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  • Back
Glucose 6 Phosphatase deficiency
Von Gierke's disease (type 1).
Lysosomal α-1,4-glucosidase deficiency
Pompe's disease (type 2).
Deficiency of debranching enzyme α-1,6-glucosidase.
Cori's disease (type 3).
Skeletal muscle glycogen phosphorylase deficiency.
McArdle's disease (type 4).
Cardiomegaly and systemic findings. Early death.
Pompe's disease.
[Pompe's trashes the Pump, heart/liver/muscle].
Converts glucose-6-phosphate to glucose.
Glucose-6-phosphatase. (von Gierke's disease).

Final step for both glyconeolysis and gluconeogenesis.
Severe fasting hypoglycemia.
von Gierke's disease.
Increased glycogen in liver, hepatomegaly, increased blood lactate.
von Gierke's disease.
Milder form of type 1 with normal blood lactate levels.
Cori's disease.
Increased glycogen in muscles but cannot break it down→ painful cramps, myoglobinuria with strenuous exercise.
McArdle's disease.