Glycogen Storage Diseases

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8 Terms

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Type Ia

Von Gierke’s disease

Glucose-6-phosphate

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Type II

Pompe’s disease

Acid alpha-glucosidase

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Type III

Cori/Forbes’ disease

Glycogen debranching enzyme

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Type IV

Anderson's disease

Glycogen Branching enzyme

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Type V (muscle involvement)

Mc Ardle’s disease

Muscle phosphorylase

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Type VI

Hers disease

Glycogen phosphorylase

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Type VII (muscle involvement)

Tarui disease

Phosphofructokinase

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Type XI

Fanconi-Bickel syndrome

Glucose transporter 2 (GLUT2)