Glycogen Storage Diseases
Terms
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- 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.
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Pompe's disease.
[Pompe's trashes the Pump, heart/liver/muscle]. - Converts glucose-6-phosphate to glucose.
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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.