Glycogen Storage Diseases (Enzyme Deficient)

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10 Terms

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Type 0

Glycogen synthase

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Type Ia - Von Gierke

Glucose-6-phosphatase

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Type Ib

ER glucose-6-phosphate transporter

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Type II - Pompe disease

Lysosomal α1=>4 and α1=>6 glucosidase

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Type IIIa - Limit dextrinosis (Forbe or Cori disease)

Liver and muscle debranching enzyme

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Type IIIb - Limit dextrinosis

Liver debranching enzymes

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Type IV - Amylopectinosis, Andersen disease

Branching enzyme

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Type V - Myophosphorylase deficiency, McArdle syndrome

Muscle phosphorylase

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Type VI - Hers disease

Liver phosporylase

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Type VII Tarui disease

Muscle and erythrocyte phosphofructokinase 1