Term
Von Gierke's Disease
defective enzyme & glycogen in affected organ |
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Definition
glucose-6-phosphatase
massive increase in amount, normal structure |
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Term
Pompe's disease
defective enzyme & glycogen in affected organ |
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Definition
alpha-1,4-glucosidase (lysosomal)
increased amt, normal structure |
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Term
Cori's disease
defective enzyme & glycogen in affected organ |
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Definition
amylo-1,6-glucosidase (debranching)
increased amount, short outer branches |
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Term
Anderson's disease
defective enzyme & glycogen in affected organ |
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Definition
Branching enzyme
normal amount, very long branches |
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Term
McArdle's Disease
defective enzyme & glycogen in affected organ |
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Definition
Phosphyorylase
moderately increased amt, normal structure
(muscle) |
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Term
Hers' diesase
defective enzyme & glycogen in affected organ |
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Definition
Phyophorylase (liver)
increased amount |
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Term
VII
defective enzyme & glycogen in affected organ |
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Definition
Phosphofructokinase (liver)
increased amt, normal structure |
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Term
VIII
defective enzyme & glycogen in affected organ |
|
Definition
Phorypylase kinase (liver)
increased amt, normal structure |
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